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Preprint ARTICLE | doi:10.20944/preprints202403.0302.v1

IL-10 and IL-1β Serum Levels, Genetic Variants, and Metabolic Syndrome: Insights into Older Adults' Clinical Characteristics

Renata de Souza Freitas, Calliandra Maria De Souza Silva, Caroline Caroline Ferreira Fratelli, Luciano Ramos de Lima, Marina Morato Stival, Silvana Schwerz Funghetto, Izabel Cristina Rodrigues da Silva, Rosângela Vieira de Andrade

Subject: Public Health And Healthcare, Primary Health Care Keywords: Metabolic Syndrome; Interlekine-10; Interlekine-1β ; older population; IL10 rs1800890; IL1B rs1143627

Online: 6 March 2024 (11:09:09 CET)

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Preprint ARTICLE | doi:10.20944/preprints202301.0343.v1

An Integrative Analysis of Chromatin Interactions, Gene Expression and Genomic Variants Identifies 30 Likely Regulatory Variants in Prostate Cancer

Mahdieh Labani, Amin Beheshti, Ahmadreza Argha, Hamid Alinejad

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: Prostate cancer; Somatic point mutations; Copy number variation; Regulatory variant, Hi-C; Per-sonalized medicine; Biomedical machine learning

Online: 19 January 2023 (02:10:02 CET)

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Preprint REVIEW | doi:10.20944/preprints202403.0876.v1

Innovations in Medicine: Exploring ChatGPT's Impact on Rare Disorder Management

Stefania Zampatti, Cristina Peconi, Domenica Megalizzi, Giulia Calvino, Giulia Trastulli, Raffaella Cascella, Claudia Strafella, Carlo Caltagirone, Emiliano Giardina

Subject: Medicine And Pharmacology, Other Keywords: Artificial Intelligence; ChatGPT; Rare Disorders

Online: 15 March 2024 (14:41:58 CET)

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Preprint ARTICLE | doi:10.20944/preprints202306.0010.v1

CoVigator – a Knowledge Base for Navigating SARS-CoV-2 Genomic Variants

Thomas Bukur, Pablo Riesgo-Ferreiro, Patrick Sorn, Ranganath Gudimella, Johannes Hausmann, Thomas Rösler, Martin Löwer, Barbara Schrörs, Ugur Sahin

Subject: Computer Science And Mathematics, Mathematical And Computational Biology Keywords: SARS-CoV-2; dashboard; genomic variants; software; pipeline; virus genome assemblies; knowledge base

Online: 1 June 2023 (03:16:09 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202406.0327.v1

Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population

Anja Kovanda, Tadeja Lukežič, Aleš Maver, Hana Vokač Križaj, Mojca Čižek Sajko, Julij Šelb, Matija Rijavec, Urška Bidovec-Stojković, Barbara Bitežnik, Boštjan Rituper, Peter Korošec, Borut Peterlin

Subject: Medicine And Pharmacology, Other Keywords: severe COVID-19; severe outcome of SARS-CoV-2 infection; whole-genome sequencing; WGS; genetic susceptibility; rare variants; human rare genomic variants

Online: 6 June 2024 (07:30:51 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202402.1128.v1

Genetic Factors Contributing to the Pathogenesis of Essential Hypertension in Two African Populations

Kusha Kalideen, Brian Rayner, Raj Ramesar

Subject: Biology And Life Sciences, Other Keywords: essential hypertension; South Africa; Mixed Ancestry; Xhosa; RAAS; AGTR1; AGT; ACE; CYP11B2

Online: 20 February 2024 (09:20:43 CET)

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Preprint REVIEW | doi:10.20944/preprints201911.0085.v1

Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing

Charles F Rowlands, Diana Baralle, Jamie M Ellingford

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: mendelian disease; diagnostics; variant interpretation; variant prioritization; rna splicing; bioinformatics; machine learning; genomic medicine; effect prediction

Online: 8 November 2019 (04:07:16 CET)

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Preprint CASE REPORT | doi:10.20944/preprints202409.0406.v1

G6PD Potenza: A Novel Pathogenic Variant Broadens the Mutational Landscape in the Italian Population

Claudio Ricciardi Tenore, Eugenia Tulli, Claudia Calo, Roberto Bertozzi, Jessica Evangelista, Giulia Maneri, Martina Rinelli, Francesca Brisighelli, Alessia Perrucci, Elisa De Paolis, Andrea Urbani, Maria De Bonis, Angelo Minucci

Subject: Public Health And Healthcare, Public Health And Health Services Keywords: G6PD Potenza; Sanger Sequencing; G6PD deficiency; RFLP; Italian population

Online: 5 September 2024 (08:20:55 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202403.0571.v1

Streamlined Two-Step Fragment Analysis PCR and Exome Sequencing of RFC1 for Diagnostic Testing of Suspected CANVAS Patients

Helena Jaklič, Ivana Babič Božović, Borut Peterlin, Anja Kovanda

Subject: Medicine And Pharmacology, Other Keywords: Cerebellar ataxia neuronopathy and vestibular areflexia syndrome (CANVAS); RFC1; genetic testing; genetic diagnostics, ; fluorescent PCR; repeat-primed PCR; repeat-expansion; fragment length analysis

Online: 11 March 2024 (05:36:41 CET)

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Preprint ARTICLE | doi:10.20944/preprints202405.0159.v1

The TGFβ Induced MicroRNAome of the Trabecular Meshwork

Chelsey Doyle, Breedge Callaghan, Anton W Roodnat, Lee Armstrong, Karen Lester, David A Simpson, Sarah D. Atkinson, Carl Sheridan, Declan J McKenna, Colin E Willoughby

Subject: Medicine And Pharmacology, Ophthalmology Keywords: glaucoma; primary open-angle glaucoma; POAG; trabecular meshwork; intra-ocular pressure; pseudoexfoliation glaucoma; microRNA; miRNA; transforming growth factor beta; TGFβ ; fibrosis; epigenetics; gene therapy; therapeutics

Online: 3 May 2024 (11:22:57 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202404.0420.v1

Pirfenidone Reverts Global DNA Hypomethylation, Promoting DNMT1/UHRF/PCNA Coupling Complex in Experimental Hepatocarcinoma

Hipolito Otoniel Miranda-Roblero, Liliana Faridi Saavedra-Salazar, Marina Galicia-Moreno, Scarlet Arceo-Orozco, Fernando Caloca-Camarena, Ana Sandoval-Rodríguez, Jesús García-Bañuelos, Claudia Frias-Gonzalez, Monica Almeida-López, Erika Martínez-López, Juan Armendariz-Borunda, Hugo Christian Monroy-Ramirez

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: Hepatocellular carcinoma; DNMT1; DNMT3a; c-Myc; β -catenin

Online: 5 April 2024 (08:39:31 CEST)

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Preprint ARTICLE | doi:10.20944/preprints201703.0162.v1

Evaluation of the Effects of Airborne Particulate Matter on Bone Marrow-Mesenchymal Stem Cells (BM-MSCs): Cellular, Molecular and Systems Biological Approaches

Muhammad Abu-Elmagd, Mansour A Alghamdi, Magdy Shamy, Mamdouh I Khoder, Max Costa, Mourad Assidi, Roaa Kadam, Haneen Alsehli, Mamdooh Gari, Peter Natesan Pushparaj, Gauthaman Kalamegam, Mohammed Al-Qahtani

Subject: Medicine And Pharmacology, Pathology And Pathobiology Keywords: Particulate matter; BM-MSCs; cell proliferation; cell death; qRT-PCR; IPA

Online: 20 March 2017 (16:33:56 CET)

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Preprint REVIEW | doi:10.20944/preprints202406.0329.v1

Are Viruses Taxonomic Units? – A Protein Domain and Loop-Centric Phylogenomic Assessment

Gustavo Caetano-Anollés

Subject: Biology And Life Sciences, Virology Keywords: holobionts; hologenomes; LUCA; origin of viruses; phylogenomic reconstruction; process; protein structure; reductive evolution; superkingdom; syncytins

Online: 6 June 2024 (07:52:20 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202310.1276.v1

Genomic analysis and tracking of SARS-CoV-2 variants in Gwangju, South Korea from 2020 to 2022

Yeong-Un Lee, Kwangho Lee, Hongsu Lee, Jung wook Park, Sun-Ju Cho, Ji-Su Park, Jeongeun Mun, Sujung Park, Cheong-mi Lee, Juhye Lee, Mihee Seo, Eunju Kim, Jinjong Seo, Yonghwan Kim, Sun-Hee Kim, Yoon-Seok Chung

Subject: Biology And Life Sciences, Virology Keywords: COVID-19; SARS-CoV-2; whole-genome sequencing; variants; lineages

Online: 19 October 2023 (11:25:35 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202202.0164.v1

The Impact of Rare Single Nucleotide Polymorphism Variants on the Genomic Evaluation of Dairy Cattle

Tomasz Suchocki, Michalina Jakimowicz, Andrzej Zarnecki, Arkadiusz Dziech, Joanna Szyda

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: rare variants; genome-wide association study; validation test; SNP chip; genomic selection

Online: 11 February 2022 (15:59:26 CET)

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Preprint ARTICLE | doi:10.20944/preprints202405.0840.v1

Genetic Architecture of CHD in NICU patients – UMC Ljubljana Experience

Ana Peterlin, Sara Bertok, Karin Writzl, Luca Lovrečić, Aleš Maver, Maruša Debeljak, Gregor Nosan

Subject: Medicine And Pharmacology, Cardiac And Cardiovascular Systems Keywords: congenital heart disease; chromosomal microarray analysis; next-generation sequencing

Online: 13 May 2024 (12:12:36 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202406.0099.v1

Detailed Profiling of the Tumor Microenvironment in Ethnic Breast Cancer, Using Tissue Microarrays and Multiplex Immunofluorescence

Mohamed Zaakouk, Aisling Longworth, Kelly Hunter, Suhaib Jiman, Mervat El-Deftar, Abeer Shaaban

Subject: Medicine And Pharmacology, Pathology And Pathobiology Keywords: Tumor microenvironment; Multiplex immunofluorescence; Ethnic breast cancer; Multispectral imaging; TILs; T helper cells; Treg cells; FOXP3; TAMs; B cells

Online: 3 June 2024 (16:07:13 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202408.0199.v1

Assessment of Adipocyte Transduction Using Different AAV Capsid Variants

Stanislav Boychenko, Alina Abdullina, Victor Laktyushkin, Andrew Brovin, Alexander Egorov

Subject: Biology And Life Sciences, Biology And Biotechnology Keywords: adeno-associated virus; viral tropism; adipocytes; adipose tissue; anti-obesity agents; gene therapy

Online: 5 August 2024 (07:11:58 CEST)

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Preprint BRIEF REPORT | doi:10.20944/preprints202205.0018.v2

First Identification in Italy of SARS-CoV-2 Omicron BA.4 Harboring KSF141_del: Genomic Comparison with Omicron Sub-Variants

Cinzia Peronace, Rossana Tallerico, Manuela Colosimo, Marco De Fazio, Federica Pasceri, Ilenia Talotta, Giuseppina Panduri, Letizia Pintomalli, Rosaria Oteri, Valeria Calantoni, Maria Teresa Fiorillo, Maria Cristina Caroleo, Rosita Curcio, Vincenza Dolce, Erika Cione, Pasquale Minchella

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: SARS-CoV-2; Variant of Concern; BA.4; pandemic

Online: 6 May 2022 (11:55:20 CEST)

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Preprint REVIEW | doi:10.20944/preprints202404.1075.v1

Genomic Approaches for Drug Repurposing

Kirtan Dave, Meenakshi Sharma, Dahavl Patel, Parmdeep Singh Dhanda, Alpa Yadav, Mukul Jain

Subject: Biology And Life Sciences, Life Sciences Keywords: drug repurposing; genomics; Proteomics; NGS

Online: 17 April 2024 (11:38:22 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202403.0561.v2

Genomic and Phenotypic Analysis of Salmonella enterica Bacteriophages Identifies Two Novel Phage Species

Sudhakar Bhandare, Opeyemi U. Lawal, Anna Colavecchio, Brigitte Cadieux, Yella Zahirovich-Jovich, Zeyan Zhong, Elizabeth Tompkins, Margot Amitrano, Irena Kukavica-Ibrulj, Brian Boyle, Siyun Wang, Roger C. Levesque, Pascal Delaquis, Michelle Danyluk, Lawrence Goodridge

Subject: Biology And Life Sciences, Immunology And Microbiology Keywords: Salmonella; bacteriophage; diversity; host specificity; comparative phylogenomics; food safety.

Online: 13 March 2024 (14:07:08 CET)

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Preprint ARTICLE | doi:10.20944/preprints202403.0244.v1

The Effect of Genome Parametrization and SNP Marker Subsetting on Genomic Selection in Autotetraploid Alfalfa

Nelson Nazzicari, Nicolo Franguelli, Barbara Ferrari, Luciano Pecetti, Paolo Annicchiarico

Subject: Biology And Life Sciences, Agricultural Science And Agronomy Keywords: legumes; alfalfa; genomic selection; SNP calling pipeline; autotetraploidy; polyploidy; genome parametrization; SNP subsetting

Online: 5 March 2024 (10:25:28 CET)

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Preprint ARTICLE | doi:10.20944/preprints202403.1262.v1

Role of Il-6, IL-10 and TNFα Gene Variants in Preterm Birth

Mirta Kadivnik, Deni Plečko, Kristina Kralik, Nena Arvaj, Jasenka Wagner

Subject: Medicine And Pharmacology, Obstetrics And Gynaecology Keywords: premature birth; single nucleotide polymorphisms; inflammation; cytokines; interleukins

Online: 21 March 2024 (08:57:59 CET)

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Introduction: The association of gene variants for interleukin 6(IL-6) (rs1800796), interleukin 10 (IL-10) (rs1800896) and tumor necrosis factorα (TNFα (rs1800629) with the occurrence of spontaneous preterm birth (PTB) was investigated to determine whether these genetic variants are a risk factor. Materials and methods: 199 blood samples from pregnant women who had given birth prematurely and 200 control blood samples were analyzed to determine single nucleotide polymor-phisms (SNPs) of genes for IL-6 (rs1800796), IL-10 (rs1800896) and TNFα (rs1800629). The control samples were samples from pregnant women with term delivery. Isolation of DNA was per-formed on mini-spin columns according to the manufacturer's protocol. The quality and purity of the isolated DNA were tested using a Qubit 3 fluorometer. Genotyping was performed with an ABI PRISM 7500 SDS using TaqMan SNP genotyping assays. The genotypes obtained were an-alyzed using the 7500 Software v2.3 package. Results: Carriers of the A/A genotype for the rs1800629 of the TNFα gene have 4.81 times greater chance of late-onset PTB compared to carriers of the G/G and A/G genotypes in the recessive inheritance model. The presence of the G/G genotype in the recessive inheritance model compared with the G/A and A/A genotypes for the rs1800896 of the IL-10 gene represents a potentially protective factor, with mothers in the term-birth group having an almost 2-fold lower odds of PTB in general and an almost 10-fold lower odds of early PTB. On the other hand, carriers of the A/G genotype of rs1800896 have a 1.54-fold higher chance of preterm birth in general and a 1.6-fold higher chance of late preterm birth in the super dominant inheritance model compared to the A/A and G/G genotypes in the group of mothers with PTB. In this study, no association was found between PTB and rs1800796 of the IL-6 gene. Conclusion: rs1800629 in mothers was associated with PTB. rs1800896 shows a potentially protective effect for the occurrence of PTB in this study. No association was found between PTB and rs1800796.

Preprint REVIEW | doi:10.20944/preprints202407.1479.v1

Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era

Conor John O’Donovan, Lay Teng Tan, Mohd Azri Zainal Abidin, Marion Ruth Roderick, Alexandros Grammatikos, Jolanta Bernatoniene

Subject: Medicine And Pharmacology, Immunology And Allergy Keywords: Inborn errors of immunity (IEI); Chronic granulomatous disease (CGD); NADPH oxidase; Nitroblue tetrazolium (NBT); Dihydrorhodamine (DHR); Genetic testing; Genomic testing; Screening

Online: 18 July 2024 (14:38:08 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202406.1937.v1

Emergence of recombinant SARS-CoV-2 variants in California, 2020-2022

Rahil Ryder, Emily Smith, Deva Borthwick, Jesse Elder, Mayuri Panditrao, Christina Morales, Debra A. Wadford

Subject: Public Health And Healthcare, Other Keywords: SARS-CoV-2; genomic epidemiology; genomic surveillance; recombination; whole-genome sequencing; California COVIDNet

Online: 27 June 2024 (11:03:23 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202409.1780.v1

Phenotypic and Genomic Evaluation of ProbioGel (A Probiotic-Infused Cellulose Hydrogel) for Antimicrobial Activity

Alvin Domingo, Abigail Castro, Jayson Cariaga, Francis Gamboa, Aira Cassandra Castro, Aira Nadine Pascua, Jimmbeth Zenila Fabia, Peter James Gann, Bjorn Santos, Shirley Agrupis

Subject: Biology And Life Sciences, Immunology And Microbiology Keywords: antimicrobial; probiotics; whole genome sequencing; nipa palm

Online: 24 September 2024 (09:06:16 CEST)

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Preprint REVIEW | doi:10.20944/preprints202311.1531.v1

Sex Differences in Colon Cancer: Genomic and Non‐Genomic Signaling of Estrogen

Brian Joseph Harvey, Harry Myles Harvey

Subject: Biology And Life Sciences, Endocrinology And Metabolism Keywords: colon cancer; estrogen; estrogen receptors, sex differences

Online: 23 November 2023 (13:35:24 CET)

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Preprint ARTICLE | doi:10.20944/preprints202402.1140.v2

The Surprises of Molecular Testing in Neurofibromatosis Type 1: Rare Association between Two Mutational Variants

Aurora Jurca, Codruta Diana Petchesi, Maria Claudia Jurca, Diter Atasie, Dan Bembea, Alexandru Daniel Jurca

Subject: Medicine And Pharmacology, Other Keywords: neurofibromatosis type 1; cone-rod dystrophy; molecular diagnosis; rare association

Online: 12 April 2024 (14:32:30 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202409.1941.v1

Wound Healing Efficacy of Cellulose Hydrogel on ICR Mice: A Morphoanatomical, Histological and Genomic Study

Abigail Castro, Alvin Domingo, Jayson Cariaga, Francis Gamboa, Aira Cassandra Castro, Aira Nadine Pascua, Jimmbeth Zenila Fabia, Peter James Gann, Bjorn Santos, Shirley Agrupis

Subject: Biology And Life Sciences, Biology And Biotechnology Keywords: wound healing; cellulose hydrogel; probiotics; histological assessment

Online: 24 September 2024 (16:57:31 CEST)

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Preprint REVIEW | doi:10.20944/preprints202404.0708.v1

Comprehensive Overview of Broadly Neutralizing Antibodies against SARS-COV-2 Variants

Lingyan Cui, Tingting Li, Wenhui Xue, Sibo Zhang, Hong Wang, Hongjing Liu, Ying Gu, Ningshao Xia, Shaowei Li

Subject: Biology And Life Sciences, Immunology And Microbiology Keywords: SARS-CoV-2 variants; mutations; broadly neutralizing antibodies; epitopes

Online: 10 April 2024 (10:54:24 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202408.0373.v1

Effect of EDA1 Variants on Human Pulp Stem Cell Biology and Odontogenic Differentiation

Yulin Ding, Genqi Lu, Yi Zhang, Jing Zhang, Jingle Ma, Ya Zhao, Yunyun Yuan, Boyu Liu, Wei Liu, Wenjing Shen

Subject: Medicine And Pharmacology, Dentistry And Oral Surgery Keywords: Ectodysplasin-A1; proliferation; migration; odontogenic differentiation; human dulp stem cells; c-FOS

Online: 6 August 2024 (06:20:11 CEST)

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Background: Two explored EDA1 variants regulate the biological behaviors of human dental pulp stem cells (hDPSCs), such as proliferation and migration, as well as their effects on odontogenic differentiation, providing a theoretical basis for further exploration of the mechanisms underlying EDA1-induced tooth development. Methods: The experimental groups included a wild-type EDA1 group (Wt), non-syndromic tooth agenesis variants EDA1 group (NSTA-A259E, NSTA-S374R), syndrome type variant EDA1 group (STA-H252L), and an empty vector control group (PCR3/NC). CCK-8 method was used to investigate the proliferative activity of hDPSCs. The cell cycle distribution of hDPSCs was detected by flow cytometry; The cell migration ability was assessed using the cell scratch and Transwell tests; Odontogenic differentiation medium was used to induce mineralization of hDPSCs, followed by statistical analysis. RNA-Seq revealed that FOS, JUN and other genes were found to be enriched in MAPK signaling pathway and osteoclast differentiation pathway. qPCR was used to detect mRNA expression of hub genes (FOS and JUN). Results: Compared with the NSTA-EDA1 and STA-EDA1, Wt-EDA1 promotes the proliferation and transformation of hDPSCs from the G0/G1 phase to S phase (p<0.01), with no significant difference between NSTA-EDA1 and STA-EDA1 (p>0.05). Wt-EDA1 also upregulated hDPSCs cell migration compared to NSTA-EDA1 and STA-EDA variants, as demonstrated by migration assays (p<0.01). NSTA-EDA1 and STA-EDA1 variants inhibited the odontogenic differentiation of hDPSCs compared to the Wt group, as shown by Alizarin red staining and ALP staining (p<0.01). RNA sequencing revealed that the differentially expressed genes FOS and JUN were enriched in the MAPK signaling pathway and osteoclast differentiation. Compared with Wt-EDA1, EDA1 variants lost the ability to promote c-FOS mRNA expression, as confirmed by qPCR. Conclusions: EDA1 variants fail to the promote c-FOS mRNA expression in hDPSCs, thereby inhibiting odontogenic differentiation and losing the ability to enhance the proliferation of hDPSCs.

Preprint REVIEW | doi:10.20944/preprints202409.2011.v1

Crossing Age Boundaries: The Unifying Potential of Presepsin in Sepsis Diagnosis Across Diverse Age Groups

Edmilson Leal Bastos de Moura, Rinaldo Wellerson Pereira

Subject: Medicine And Pharmacology, Clinical Medicine Keywords: sepsis; biomarkers; presepsin; elderly; neonates; adults

Online: 25 September 2024 (12:12:13 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202404.1502.v1

Genomic Profiling and Expression Analysis of BPC Gene Family in Brassica oleracea in Comparison with Arabidopsis

Muhammad Asad Ullah, Akmal Zubair, Aqsa Parvaiz, Inzamam Ul Haq, Hayssam M. Ali, Waleed A. A. Alsakkaf, Mohamed E. Hasan

Subject: Biology And Life Sciences, Biology And Biotechnology Keywords: basic pentacysteine; genomic analysis; chromosomal mapping; gene expression

Online: 23 April 2024 (07:29:04 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202408.1885.v1

Modeling Signal Integrity in High-Frequency and Radio Frequency Circuits-A Comparison of Ohm’s Law Variants

Kimuya Alex

Subject: Engineering, Electrical And Electronic Engineering Keywords: High-frequency circuits; Modified Ohm’ s Law; Non-linear resistance; Electronic devices; Signal integrity; Exponential correction; Low resistance predictions; High-current predictions

Online: 27 August 2024 (13:18:05 CEST)

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High-frequency circuit performance is significantly impacted by impedance variations, particularly within the low-resistance regime. Traditional Ohm’s Law based modeling approaches often fail to accurately predict circuit behavior in these conditions, leading to design inaccuracies and potential system failures. The Standard Ohm’s Law based model’s prediction of infinite current as resistance approaches zero is physically unrealistic and hinders its application in practical scenarios. Despite the recognition of these limitations, existing models have not comprehensively addressed the complex impedance behavior observed in high-frequency circuits. To overcome these challenges, this paper introduces a modified version of the Ohm’s Law incorporating an exponential correction term. The Modified Ohm’s Law’s accuracy was evaluated through simulated experiments across a wide frequency range (1kHz to 1GHz) using various electronic components. The findings demonstrate the superior performance of the modified model in predicting currents under low-resistance and high-current conditions compared to the Standard Ohm’s Law model. By providing finite and accurate current values, the proposed model effectively mitigates the unrealistic infinite current predictions of the standard approach. The enhanced predictive capabilities of the Modified Ohm’s Law hold significant implications for high-frequency circuit design and analysis. Its application can lead to improved performance and reliability in power electronics, telecommunications, and other high-frequency systems. By incorporating non-linear impedance behavior, the model offers a more accurate representation of real-world circuit conditions. Future research should focus on refining the exponential term’s parameters to optimize the model's accuracy across a broader range of applications. Additionally, real-time implementation and hardware validation are essential to assess the model's practical utility in complex circuit environments.

Preprint REVIEW | doi:10.20944/preprints202401.1746.v1

COVID-19 Variants and Vaccine Development

Ziyao Zhao, Sahra Bashiri, Zyta M. Ziora, Istvan Toth, Mariusz Skwarczynski

Subject: Biology And Life Sciences, Immunology And Microbiology Keywords: COVID-19; SARS-CoV-2; Mutations; Variants; Vaccination; Vaccine effectiveness

Online: 24 January 2024 (08:53:45 CET)

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Preprint REVIEW | doi:10.20944/preprints201911.0050.v1

Activity and Affinity of Pin1 Variants

Alexandra Born, Morkos A. Henen, Beat Vögeli

Subject: Chemistry And Materials Science, Organic Chemistry Keywords: Pin1; WW domain; PPIase domain; mutants; activity; affinity

Online: 6 November 2019 (02:40:49 CET)

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Preprint ARTICLE | doi:10.20944/preprints202408.2221.v1

Human-Activity-Mediated Gene Flows Are Involved in the Establishment of Magnaporthe oryzae Population Structures: A Population Genomic Analysis

Guohua Duan, Yuchan Liu, Cheng Zheng, Kaihui Yu, Jiahui Xie, Baohua Wang, Huakun Zheng, Wei Tang, Jiandong Bao, Zonghua Wang, Meilian Chen

Subject: Biology And Life Sciences, Ecology, Evolution, Behavior And Systematics Keywords: Magnaporthe oryzae; population structure; genetic diversity; gene flow

Online: 30 August 2024 (08:36:22 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202407.0837.v1

BacSPaD: A Robust Bacterial Strains’ Pathogenicity Resource Based on Integrated and Curated Genomic Metadata

Sara Ribeiro, Guillaume Chaumet, Karine Alves, Julien Nourikyan, Lei Shi, Jean-Pierre Lavergne, Ivan Mijakovic, Simon de Bernard, Laurent Buffat

Subject: Biology And Life Sciences, Immunology And Microbiology Keywords: Bacterial pathogenicity; Genomic metadata analysis; Bioinformatics; Microbiology research; Public health surveillance

Online: 11 July 2024 (00:01:42 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202408.0599.v1

A Comprehensive Analysis of the Genomic and Expressed Repertoire of the T Cell Receptor Beta Chain in Equus caballus

Rachele Antonacci, Francesco Giannico, Roberta Moschetti, Angela Pala, Anna Caputi Jambrenghi, Serafina Massari

Subject: Biology And Life Sciences, Life Sciences Keywords: alpha-beta T cell; TRB locus; Perissodactyla; Equus; equine genome; immunogenetics; evolution

Online: 8 August 2024 (08:48:37 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202408.0800.v1

Wastewater Genomic Surveillance to Track Infectious Disease-Causing Pathogens in Agadir and Inezgane Cities

Maryem Wardi, Ahmed Belmouden, Mohamed Aghrouch, Abdellah Lotfy, Youssef Idaghdour, Zohra Lemkhente

Subject: Biology And Life Sciences, Virology Keywords: Wastewater-based epidemiology; COVID-19; SARS-CoV-2; Influenza A; Morocco; Genomic surveillance

Online: 13 August 2024 (03:24:22 CEST)

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Preprint BRIEF REPORT | doi:10.20944/preprints202006.0255.v1

CD44 Alternative Splice Variants v6 and v10

Ahmed Aquib, Ajay Kumar Yadav

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: U87MG; CD44; splice factor

Online: 21 June 2020 (10:45:09 CEST)

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Preprint CASE REPORT | doi:10.20944/preprints202312.1095.v2

Genomic Exploration of Pediatric Neurological Diversity: Lessons from Clinical Exome Panel Sequencing

Naresh Tayade, Anjali Krishna A, Gautham Manoj, Akshay Kewat, Rajiv Devulapalli, Somesh Kumar, Sunil K Polipalli, Bipin G Nair, Obul Reddy Bandapalli, Prashanth Suravajhala

Subject: Medicine And Pharmacology, Pediatrics, Perinatology And Child Health Keywords: Rare conditions; Neurological disorders; Autism; Arthrogryposis; Bilateral cataract

Online: 7 August 2024 (00:30:58 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202303.0007.v1

A Virus Genetic System To Analyze the Fusogenicity of Human Cytomegalovirus Glycoprotein B Variants

Xuan Zhou, Giorgia Cimato, Yi-Hua Zhou, Giada Frascaroli, And Wolfram Brune

Subject: Biology And Life Sciences, Virology Keywords: Human herpesvirus 5; glycoprotein B; UL55; cell-cell fusion; entry; infectivity

Online: 1 March 2023 (03:05:22 CET)

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Preprint ARTICLE | doi:10.20944/preprints202409.2039.v1

Germline Variants in Proto-Oncogenes and Tumor Suppressor Genes in Women with Cervical Cancer

Ksenia Lenkova, Rita Khusainova, Raushaniya Minyazeva, Aliya Zaripova, Irina Gilyazova, Natalia Mokrysheva, Ildar Minniakhmetov

Subject: Biology And Life Sciences, Life Sciences Keywords: cancer; oncogenes; tumor suppressor genes; molecular genetic landscape

Online: 25 September 2024 (15:33:27 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202405.0524.v1

Precision Dopaminergic Treatment in a Cohort of Parkinson’s disease Patients Carrying Autosomal Recessive Gene Variants: Clinical Cohort Data and a Mini Review

Christos Koros, Athina-Maria Simitsi, Nikolaos Papagiannakis, ANASTASIA BOUGEA, Roubina Antonelou, Ioanna Pachi, Evangelos Sfikas, Evangelia Stanitsa, Efthalia Angelopoulou, Vasilios C. Constantinides, Sokratis Papageorgiou, Constantin Potagas, Maria Stamelou, Leonidas Stefanis

Subject: Medicine And Pharmacology, Neuroscience And Neurology Keywords: Parkinson’s disease; genetic; recessive; treatment; Levodopa; dopamine agonists; amantadine

Online: 9 May 2024 (14:43:40 CEST)

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Preprint BRIEF REPORT | doi:10.20944/preprints202405.2080.v1

On the Screened Kratzer Potential and Its Variants

Francisco Fernández

Subject: Physical Sciences, Mathematical Physics Keywords: Kratzer potential; screened Kratzer potential; vibrational-rotational spectrum; dissociation energy; equilibrium bond length

Online: 31 May 2024 (10:01:10 CEST)

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Preprint REVIEW | doi:10.20944/preprints201810.0708.v1

Overview of Genomic Tools for Circular Visualization in next-Generation Genomic Sequencing Era

Alisha Parveen, Sukank Khurana, Abhishek Kumar

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: circular visualization; circos; genomics; next-generation sequencing

Online: 30 October 2018 (07:06:35 CET)

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Preprint ARTICLE | doi:10.20944/preprints202405.0574.v1

Biallelic Variants in LIPT2 as a Cause of Infantile-Onset Dystonia: Expanding the Clinical and Molecular Spectrum

Kuntal Sen, Alonso Zea Vera, Anna Puronurmi, Andrea Gropman, Parith Wongkittichote, Rebecca Ganetzky, Kaija Autio, Alexander Kastaniotis

Subject: Biology And Life Sciences, Neuroscience And Neurology Keywords: LIPT2; mitochondrial disorder; dystonia; lipoic acid biosynthesis disorder

Online: 9 May 2024 (07:31:36 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202403.0465.v1

Stable Variable Selection Method with Shrinkage Regression Applied to the Selection of Genetic Variants Associated with Alzheimer’s Disease

Vera Afreixo, Ana Helena Tavares, Vera Enes, Miguel Pinheiro, Leonor Rodrigues, Gabriela Moura

Subject: Computer Science And Mathematics, Applied Mathematics Keywords: penalized regression; Akaike’ s Information Criterion; high-dimensional data; stability; overall weighted coefficients; Alzheimer’ s disease; SNP

Online: 8 March 2024 (04:29:51 CET)

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Preprint ARTICLE | doi:10.20944/preprints202404.1794.v1

Genomic Characterization of Carbapenemase-Producing Enterobacter hormaechei, Serratia marcescens, Citrobacter freundii, Providencia stuartii and Morganella morganii Clinical Isolates from Bulgaria

Stefana Sabtcheva, Ivan Stoikov, Ivan N. Ivanov, Deyan Donchev, Magdalena Lesseva, Sylvia Georgieva, Deana Teneva, Elina Dobreva, Iva Christova

Subject: Medicine And Pharmacology, Medicine And Pharmacology Keywords: carbapenemases; NDM-1; VIM-4; VIM-86; OXA-48; horizontal gene transfer; Enterobacter; Serratia; Citrobacter; Providencia; Morganella

Online: 28 April 2024 (08:17:31 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202407.1579.v1

Combined Genome-Wide Association Studies (GWAS) and Linkage Mapping Identifies Genomic Regions Associated with Seedling Root System Architecture (RSA) under Different Nitrogen Conditions in Wheat (Triticum aestivum L.)

Yulin Jia, Ninglu Xu, Jun Zhang, Kaiming Ren, Jinzhi Wu, Chunping Wang, Ming Huang, Youjun Li

Subject: Biology And Life Sciences, Plant Sciences Keywords: Keywords：Triticum aestivum L; root system architecture; N use efficiency; GWAS; linkage mapping; 660K SNP chip; DArT

Online: 19 July 2024 (08:37:45 CEST)

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The nutrient absorption and utilization efficiency in the roots of seedlings are beneficial for increasing crop yield. Creating marker assisted selection for wheat root traits can assist wheat breeders in choosing robust roots to maximize nutrient uptake. Exploring and identifying the effect of different nitrogen applications on RSA is of great significance for breeding nitrogen efficient wheat varieties. In this study, A total of 243 wheat varieties native to the Yellow and Huai Valley regions of China were utilized for genome-wide association studies (GWAS). Furthermore, a recombinant inbred line (RIL) population of 123 lines derived from the cross between Avocet and Chilero was utilized for linkage examination and confirmation of the hereditary loci distinguished by GWAS. Five RSA traits include the relative number of root tips (RNRT); relative total root length (RTRL); relative total root surface area (RTRS); relative total root volume (RTRV) and relative average root diameter (RARD) where evaluated under two N conditions—normal N (NN) supply and low N (LN)—to characterize the NUE of each accession. GWAS and linkage analysis were performed by integrating data from the wheat 660k single nucleotide polymorphism (SNP) chip and diversity arrays technology (DArT) to identify genetic loci associated with RSA. The results showed that based on the ratio of RSA related traits under two N supply conditions, a total of 598 SNP markers, which are significantly associated with RSA related traits, were detected at 160 genetic loci by GWAS. A total of 10 QTL loci related to RSA were dis-covered and identified by linkage mapping. In which, three significant RSA related Quantitative Trait Locus (QTL) were identified, namely qRtrl-3D, qRnrt-3D, and qRtrl-7D. The study has the potential to enhance the effectiveness of selecting root traits in wheat breeding programs, offering valuable insights into the genetic underpinnings of nitro-gen use efficiency (NUE) in wheat. This could lead to the creation of NUE wheat varieties by implementing focused breeding strategies.

Preprint COMMUNICATION | doi:10.20944/preprints202404.1865.v1

Detection and Characterization of Methylated Circulating Tumor DNAs in Gastric Cancer

Seung Young Seo, Sang Hee Youn, Jin-Han Bae, Sung-Hun Lee, Sun Young Lee

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: Gastric cancer; Liquid biopsy; MeDIP; Fragment

Online: 29 April 2024 (10:34:32 CEST)

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Working Paper ARTICLE

The INDIA Mutations and B.1.617 Variants: Is there a Global "Strategy" for Mutations and Evolution of Variants of the SARS-CoV2 Genome?

Jean-claude Perez

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: SARS-CoV2; Biomathematics; vaccine; variants; mRNA; Fibonacci; Indian variants; B.1.617; B.1.617.2.

Online: 18 May 2021 (14:05:33 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202402.1069.v1

GWAS in a Collection of Bulgarian Old and Modern Bread Wheat Accessions Uncovers Novel Genomic Loci for Grain Protein Content and Thousand Kernel Weight

Tania Kartseva, Vladimir Aleksandrov, Ahmad M. Alqudah, Mian Abdur Rehman Arif, Konstantina Kocheva, Dilyana Doneva, Katelina Prokopova, Andreas Börner, Svetlana Misheva

Subject: Biology And Life Sciences, Agricultural Science And Agronomy Keywords: association mapping, candidate genes, grain protein content, TKW, grain quality, grain yield, Triticum aestivum L.

Online: 19 February 2024 (15:26:36 CET)

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Preprint ARTICLE | doi:10.20944/preprints202404.0360.v1

Functional Characterization of a Spectrum of Genetic Variants in a Family With Succinic Semialdehyde Dehydrogenase Deficiency

Miroslava Didiasova, Samuele Cesaro, Simon Feldhoff, Ilaria Bettin, Nana Tiegel, Vera Füssgen, Mariarita Bertoldi, Ritva Tikkanen

Subject: Medicine And Pharmacology, Neuroscience And Neurology Keywords: Neurotransmitter diseases; GABA; mitochondria; protein folding; chaperones; aldehyde dehydrogenases

Online: 4 April 2024 (09:12:15 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202007.0336.v3

Factors Influencing Genomic Prediction Accuracies of Tropical Maize Resistance to Fall Armyworm and Weevils

Arfang Badji, Lewis Machida, Daniel Bomet Kwemoi, Frank Kumi, Dennis Okii, Natasha Mwila, Symphorien Agbahoungba, Angele Ibanda, Astere Bararyenya, Selma Ndapewa Nghituwamhata, Thomas Odong, Peter Wasswa, Mildred Ochwo-Ssemakula, Herbert Talwana, Godfrey Asea, Michael Otim, Samuel Kyamanywa, Patrick Rubaihayo

Subject: Biology And Life Sciences, Agricultural Science And Agronomy Keywords: Prediction accuracy; Mixed linear and Bayesian models; Machine Learning algorithms; Training set size and composition; Parametric and nonparametric models

Online: 17 September 2020 (05:41:51 CEST)

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Preprint REVIEW | doi:10.20944/preprints202407.1052.v1

Targeting Androgen, Thyroid Hormone, and Vitamin A and D Receptors to Treat Prostate Cancer

Brigitte Hantusch, Lukas Kenner, Vesna S Stanulović, Maarten Hoogenkamp, Geoffrey Brown

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: Prostate cancer; nuclear hormone receptors; androgen receptor; thyroid hormone receptor; retinoic acid receptor; vitamin D receptor

Online: 12 July 2024 (13:59:33 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202403.1634.v1

Genomic Insight into the COVID-19 Severity in MAFLD Patients: A Single-Center Prospective Cohort Study

Mykhailo Buchynskyi, Valentyn Oksenych, Iryna Kamyshna, Olena Budarna, Oleksandr Kamyshnyi

Subject: Medicine And Pharmacology, Epidemiology And Infectious Diseases Keywords: MAFLD; liver disease; SNP; COVID-19; SARS-CoV-2; interferon

Online: 27 March 2024 (15:01:31 CET)

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Preprint ARTICLE | doi:10.20944/preprints202403.0192.v1

Correlating Quantitative and Genomic SARS-CoV-2 Wastewater Data with Clinical Metrics in Metropolitan Perth, Western Australia

Jake Gazeley, Terence Lee, Daniel R Knight, Alexander Shivarev, Cameron Gordon, David Speers, Dylan D Barth, Jelena Maticevic, Meredith Hodge, Paul Armstrong, Paul Knight, Sandra Sjollema, Avram Levy

Subject: Public Health And Healthcare, Public Health And Health Services Keywords: Wastewater-based epidemiology; SARS-CoV-2; COVID-19; surveillance system; correlation analysis; genomics

Online: 5 March 2024 (09:07:35 CET)

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Preprint ARTICLE | doi:10.20944/preprints202308.1002.v2

High Sensitivity for Detection of Primary Diagnostic Variants in Autism Spectrum Disorder, Including De Novo Variants, with Trio Whole Genome Sequencing and Data Reanalysis

Omri Bar, Elizabeth Vahey, Mark Mintz, Richard Eugene Frye, Richard Gregory Boles

Subject: Medicine And Pharmacology, Pediatrics, Perinatology And Child Health Keywords: autism; diagnostic yield; DNA sequencing; novel disorders

Online: 10 October 2023 (05:00:59 CEST)

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Preprint REVIEW | doi:10.20944/preprints202405.0592.v1

Progress and Application of Genomic Selection in Sheep and Goat

Linyun Zhang, Yixin Duan, Naiyi Xu, Yongju Zhao

Subject: Biology And Life Sciences, Animal Science, Veterinary Science And Zoology Keywords: Goat; Sheep; Genomic Selection; Genetic Evaluation; Accuracy

Online: 9 May 2024 (11:57:38 CEST)

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Preprint REVIEW | doi:10.20944/preprints202110.0011.v1

Artificial Intelligence and Machine Learning in Precision and Genomic Medicine

Sameer Quazi

Subject: Computer Science And Mathematics, Mathematical And Computational Biology Keywords: Machine Learning; Precision Medicine; Genomic Medicine; Therapeutic; Artificial Intelligence

Online: 1 October 2021 (11:41:27 CEST)

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Preprint REVIEW | doi:10.20944/preprints202406.1671.v1

Consent Considerations for Generation and Sharing of Genomic Data

Charles D. Warden

Subject: Public Health And Healthcare, Health Policy And Services Keywords: data sharing, policy, genomics, genetics

Online: 25 June 2024 (09:26:47 CEST)

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Preprint REVIEW | doi:10.20944/preprints202202.0042.v1

Utilizing Genomic Selection for Wheat Population Development and Improvement

Lance F. Merrick, Andrew W. Herr, Karansher S. Sandhu, Dennis N. Lozada, Arron H. Carter

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: plant breeding; two-part strategy; recurrent selection; population improvement; product development; optimization; genetic gain; cross-prediction

Online: 2 February 2022 (18:07:58 CET)

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Working Paper ARTICLE

Geographic and Genomic Distribution of SARS-CoV-2 Mutations

Daniele Mercatelli, Federico Manuel Giorgi

Subject: Biology And Life Sciences, Virology Keywords: SARS-CoV-2; genomics coronavirus; COVID-19 evolution

Online: 3 July 2020 (09:45:43 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202404.0184.v1

Carbohydrate Hydrolytic Activity, Antibiotic Resistance and Stress Tolerance of Lacticaseibacillus paracasei BCRC-16100 and Lacticaseibacillus paracasei ZFM54 for Probiotics Using Genomic and Biochemical Approaches

Peter James Icalia Gann, Jimmbeth Zenila P. Fabia, Althea Gay B. Pagurayan, Ma. Joy Theresa Agcaoili, Ryan James J. Pascual, Suerte M. Baranda, Arc Josam J. Racho, Marvielyn P. Olivar, Jayson F. Cariaga, Alvin Domingo, Dionisio S. Bucao, Shirley C. Agrupis

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: probiotics; nutrient digestion; antibiotic resistance; antibacterial activity; whole genome sequence

Online: 2 April 2024 (10:16:40 CEST)

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Preprint REVIEW | doi:10.20944/preprints202311.0482.v1

Germline Variants and Characteristic Features of Hereditary Hematological Malignancy Syndrome

Hironori Arai, Hirotaka Matsui, SungGi Chi, Yoshikazu Utsu, Shinichi Masuda, Nobuyuki Aotsuka, Yosuke Minami

Subject: Biology And Life Sciences, Life Sciences Keywords: HHMS; AML; MDS; DDX41; TP53; SAMD9; SAMD9L; germline; variant

Online: 8 November 2023 (01:43:02 CET)

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Preprint ARTICLE | doi:10.20944/preprints202310.0829.v1

Mitochondrial DNA Haplogroups and Variants Predispose to Chagas Disease Cardiomyopathy

Frédéric Gallardo, Pauline Brochet Brochet P, David Goudenège, João Paulo Silva Nunes, Pauline Andrieux, Barbara Maria Ianni, Amanda Farage Frade, Charles Mady, Ronaldo Honorato Barros Santos, Andreia Kuramoto, Samuel Steffen, Antonio Noedir Stolf, Pablo Pomerantzeff, Alfredo Inacio Fiorelli, Edimar Alcides Bocchi, Cristina Wide Pissetti, Bruno Saba, Fabrício Dias, Marcelo Ferraz Sampaio, Fabio Antônio Gaiotto, José Antonio Marin-Neto, Abílio Fragata, Ricardo Costa Fernandes Zaniratto, Sergio Siqueira, Giselle De Lima Peixoto, Fernando Bacal, Paula Buck, Rafael Ribeiro Almeida, Hui Tzu Lin-Wang, André Schmidt, Mario Hiroyuki Hirata, Eduardo Antonio Donadi, Alexandre Costa Pereira, Virmondes Rodrigues Junior, Martino Martinelli, Michel Naslavsky, Jorge Kalil, Vincent Procaccio, Edecio Cunha-Neto, Christophe Chevillard

Subject: Biology And Life Sciences, Parasitology Keywords: chagas; cardiomyopathy; mitochondria; haplgroups; variants; copy-number

Online: 13 October 2023 (03:03:37 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202009.0062.v1

Novel Homozygous TULP1 and RPE65 Variants Underlies Recessive Retinitis Pigmentosa

Amjad Khan, Xiao Bai, Muhammad Umair, Shirui Han, Xiaerbati Habulieti, RongRong Wang, Xue Zhang

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: retinitis pigmentosa; TULP1; RPE65; recessive; missense; frameshift

Online: 3 September 2020 (07:16:45 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202408.1340.v1

In Silico Evaluation of Ten Monoclonal Antibodies Neutralization Power of SARS-CoV-2 Variants EG.5, BA.2.86 and JN.1

Dana N. Ashoor

Subject: Biology And Life Sciences, Virology Keywords: In Silico; Monoclonal; Antibodies; COVID-19; EG.5; BA.2.86; JN.1; Neutralization power; Anti-SARS-CoV-2; Variants

Online: 19 August 2024 (16:38:30 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202306.0046.v1

The Future of Newborn Genomic Screening

JOHN David LANTOS

Subject: Biology And Life Sciences, Biology And Biotechnology Keywords: ethics; genomics; neonates; outcomes; economics

Online: 1 June 2023 (07:23:07 CEST)

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Preprint REVIEW | doi:10.20944/preprints202111.0394.v1

Genomic Designing of Climate Smart Turmeric

Arpitha Shankar

Subject: Biology And Life Sciences, Biology And Biotechnology Keywords: Turmeric; Climate change; Improved nutrition

Online: 22 November 2021 (13:27:03 CET)

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Preprint REVIEW | doi:10.20944/preprints202109.0441.v1

Genomic Risk Factors for Cervical Cancer

Dhanya Ramachandran, Thilo Dörk

Subject: Medicine And Pharmacology, Oncology And Oncogenics Keywords: Cervical cancer; cervical dysplasia, HPV, HLA, GWAS, genetic susceptibility, meta-analysis, SNP, eQTL, Papillomavirus

Online: 24 September 2021 (15:28:14 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202103.0242.v1

Genomic Fabric Remodeling in Prostate Cancer

Sanda Iacobas, Dumitru A. Iacobas

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: apoptosis; evading apoptosis; expression variability; cancer functional pathway; prostate cancer phenotype; immortality; proliferation; P53 signaling; transcriptomic network

Online: 9 March 2021 (08:44:15 CET)

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Preprint CASE REPORT | doi:10.20944/preprints202408.0010.v1

Genomic Insights into Idiopathic Granulomatous Mastitis through Whole Exome Sequencing: A Case Report of Eight Patients

Seeu Si Ong, Peh Joo Ho, Alexis Jiaying Khng, Benita Kiat Tee Tan, Qing Ting Tan, Ern Yu Tan, Su-Ming Tan, Thomas Choudary Putti, Swee Ho Lim, Ee Ling Serene Tang, Jingmei Li, Mikael Hartman

Subject: Medicine And Pharmacology, Obstetrics And Gynaecology Keywords: breast pathology; breast abscess; suppurative breast lesion; tuberculous mastitis; breast cancer; mastitis; idiopathic granulomatous mastitis; somatic mutations; pathogenic mutations; whole-exome sequencing

Online: 1 August 2024 (10:59:25 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202408.0431.v1

Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients

Kevin Muret, Vincent Le Goff, Claire Dandine-Roulland, Claire Hotz, Francette Jean-Louis, Bertrand Boisson, Lilia Mesrob, Florian Sandron, Delphine Daian, Robert Olaso, Edith Le Floch, Vincent Meyer, Pierre Wolkenstein, Jean-Laurent Casanova, Yves Levy, Eric Bonnet, Jean-François Deleuze, Sophie Hüe

Subject: Medicine And Pharmacology, Dermatology Keywords: hidradenitis suppurativa; whole-exome sequencing; γ-secretase; nicastrin; notch pathway; inflammation

Online: 7 August 2024 (03:18:45 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202211.0228.v1

Genomic Diversity and Chromosomal Rearrangements in Neisseria Gonorrhoeae and Neisseria Meningitidis

Boris Shaskolskiy, Dmitry Kravtsov, Ilya Kandinov, Ekaterina Dementieva, Dmitry Gryadunov

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: Neisseria gonorrhoeae; Neisseria meningitidis; whole genome sequencing; chromosomal rearrange-ments; mobile elements

Online: 14 November 2022 (02:11:22 CET)

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Preprint CASE REPORT | doi:10.20944/preprints202404.0136.v1

From Investigating a Case of Cellulitis to Exploring Nosocomial Infection Control of ST1 Legionella pneumophila Using Genomic Approaches

Charlotte Michel, Fedoua Echahidi, Sammy Place, Lorenzo Filippin, Vincent Colombie, Nicolas Yin, Delphine Martiny, Olivier Vandenberg, Denis Piérard, Marie Hallin

Subject: Public Health And Healthcare, Public Health And Health Services Keywords: Legionella pneumophila; Legionella pneumophila ST1; WGS; genomic typing; wgMLST; cgMLST; wgSNP; nosocomial; hygiene investigation

Online: 2 April 2024 (07:26:36 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202405.0043.v1

Genomic Investigation for Potential Therapeutic Use of Abiraterone in the Amazonian Indigenous Population

Jonatas Monteiro Nobre, Marianne R. Fernandes, Jose Oliveira Venancio, Giovanna Gilioli da Costa Nunes, NEY PEREIRA CARNEIRO DOS SANTOS, PAULO PIMENTEL ASSUMPÇÃO, ÂNDREA RIBEIRO-DOS-SANTOS, SIDNEY EMANUEL BATISTA DOS SANTOS, Juliana CARLA GOMES RODRIGUES, Natasha Monte, Rommel M. R. Burbano, João Farias Guerreiro, Kaio Evandro Cardoso Aguiar

Subject: Medicine And Pharmacology, Oncology And Oncogenics Keywords: abiraterone; prostate; amazonian; indigenous; cancer

Online: 1 May 2024 (05:34:03 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202407.0713.v1

Genomic Selection for Growth and Wood Traits in Castanopsis hystrix

Weihua Zhang, Ruiyan Wei, Yuanzhen Lin

Subject: Biology And Life Sciences, Plant Sciences Keywords: Castanopsis hystrix; genomic selection; growth trait; wood trait; early selection; SNP

Online: 9 July 2024 (08:45:04 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202107.0068.v1

Genomic Landscape of Angiosarcoma: A Targeted and Immunotherapy Biomarker Analysis

Andrea Espejo-Freire, Andrew Elliot, Andrew Rosenberg, Philippos Apolinario Costa, Priscila Barreto Coelho, Emily Jonczak, Gina D’Amato, Ty Subhawong, Junaid Arshad, Julio A. Diaz-Perez, W. Michael Korn, Matthew J. Oberley, Daniel Magee, Don Dizon, Margaret von Mehren, Moh'd M. Khushman, Atif Mahmoud Hussein, Kirsten Leu, Jonathan C. Trent

Subject: Medicine And Pharmacology, Immunology And Allergy Keywords: Angiosarcoma; biomarkers; tumor microenvironment; immunotherapy, next generation sequencing, whole transcriptome sequencing.

Online: 2 July 2021 (15:43:54 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202006.0089.v1

Genomic Variations and Signatures of Selection in Wuhua Yellow Chicken

Zhuoxian Weng, Yongjie Xu, Weina Li, Jiebo Chen, Ming Zhong, Fusheng Zhong, Bingwang Du, Bin Zhang, Xunhe Huang

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: Wuhua yellow chicken; whole genome resequencing; heritable variation; selection signal

Online: 7 June 2020 (14:42:23 CEST)

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Preprint REVIEW | doi:10.20944/preprints201906.0178.v1

Evaluation of the Genomic Basis for Alzheimer’s and Parkinson’s Diseases

Pratip Rana, Edian F. Franco, Yug Rao, Khajamoinuddin Syed, Debmalya Barh, Vasco Azevedo, Rommel T. J. Ramos, Preetam Ghosh

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: Alzheimer's disease; Parkinson's disease; genetics; gene regulatory network; miRNAs

Online: 18 June 2019 (13:07:49 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202312.2134.v2

The Musa Marker Database: a Comprehensive Genomic Resource for the Improvement of the Musaceae Family

Manosh Kumar Biswas, Dhiman Biswas, Ganjun Yi, Guiming Deng

Subject: Biology And Life Sciences, Horticulture Keywords: Microsatellite; SNP; ILP; database; Musa sp.

Online: 15 April 2024 (10:44:37 CEST)

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Preprint REVIEW | doi:10.20944/preprints202408.0748.v1

Recurrent Neural Networks: A Comprehensive Review of Architectures, Variants, and Applications

Ibomoiye Domor Mienye, Theo G. Swart, George Obaido

Subject: Computer Science And Mathematics, Artificial Intelligence And Machine Learning Keywords: Deep learning; GRU; LSTM; Machine learning; NLP; RNN

Online: 12 August 2024 (12:47:52 CEST)

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Preprint COMMUNICATION | doi:10.20944/preprints202210.0361.v1

What Learned from Omicron Sub-Variants BQ.1 and BQ.1.1

Mujahed Mustafa, Abdelrafie Makhawi

Subject: Biology And Life Sciences, Virology Keywords: SARS-CoV-2; COVID-19; Omicron variants; BQ.1; BQ.1.1

Online: 24 October 2022 (11:42:07 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202112.0354.v1

Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer

Lizhen Zhu, Beiping Miao, Dagmara Dymerska, Magdalena Kuświk, Elena Bueno-Martínez, Lara Sanoguera-Miralles, Eladio A. Velasco, Nagarajan Paramasivam, Matthias Schlesner, Abhishek Kumar, Ying Yuan, Jan Lubiński, Obul Reddy Bandapalli, Asta Försti, Kari Hemminki

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: whole genome sequencing; cancer predisposition; mucin; reactive oxygen species

Online: 22 December 2021 (11:44:20 CET)

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Preprint ARTICLE | doi:10.20944/preprints202405.1436.v1

Climate Change Impacts on Mediterranean Coral Oculina Patagonica: Reproductive Resilience and Thermal Performance

Tamar Shemesh, Shani Levy, Abigail Einbinder, Itai Kolsky, Jessica Bellworthy, Tali Mass

Subject: Biology And Life Sciences, Ecology, Evolution, Behavior And Systematics Keywords: Climate Change, Temperate Coral, Reproductive Resilience, Thermal Performance, Bleaching.

Online: 22 May 2024 (12:43:17 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202204.0255.v1

First Genomic Insights Into The Mandevilla Genus

Fabio Palumbo, Samela Draga, Francesco Scariolo, Gio Batta Sacilotto, Marco Gazzola, Gianni Barcaccia

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: genome assembly; Apocynaceae; SSR; superbarcoding; flow cytometry; monoterpene indole alkaloids; DNA barcoding; cpDNA; Mandevilla sanderi

Online: 27 April 2022 (10:07:43 CEST)

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Preprint REVIEW | doi:10.20944/preprints202202.0048.v1

Optimizing Plant Breeding Programs For Genomic Selection

Lance F. Merrick, Andrew W. Herr, Karansher S. Sandhu, Dennis N. Lozada, Arron H. Carter

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: Plant Breeding; Speed Breeding; Training Population; Field Design; Multi-Environment; Multi-Trait; Deep Learning; High-Throughput Phenotyping; Genetic Gain

Online: 3 February 2022 (10:41:44 CET)

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Preprint REVIEW | doi:10.20944/preprints202103.0209.v1

Genomic Mapping in Detection of Vascular Disorders

Sameer Quazi, Arnaud Capuzzo, Javid Ahmad Malik

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: Genetic Mapping; Vascular system; Embryogenesis; Vascular disorder; PIk3CA gene

Online: 8 March 2021 (10:43:40 CET)

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Preprint ARTICLE | doi:10.20944/preprints201907.0169.v1

Genomic Analysis of the Polyvalent Bacteriophage FP01

Ignacio Vasquez, Julio Retamales, Barbara Parra, James Robeson, Javier Santander

Subject: Biology And Life Sciences, Immunology And Microbiology Keywords: polyvalent bacteriophage FP01, Escherichia coli, Salmonella, genome

Online: 12 July 2019 (13:07:09 CEST)

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Preprint REVIEW | doi:10.20944/preprints201812.0156.v1

The Report of Marine Life Genomic Research

Guangyi Fan, Jianwei Chen, Tao Jin, Chengcheng Shi, Xiao Du, He Zhang, Yaolei Zhang, Hanbo Li, Ting Luo, Pengxu Yan, Guang Liu, Xiangqun Chi, Xiaoxuan Tan, Liangwei Li, Guilin Liu, Xiaochuan Liu, Shijie Hao, Kai Han, Xiaoyun Huang, Shuai Sun, Jing Zhou, Mengjun Yu, Lingfeng Meng, Yue Chang, Rui Zhang, Kaiqiang Liu, Mengqi Zhang, Yong Zhao, Chang Li, Jiao Guo, Xinyu Guo, Jiahao Wang, Meiqi Lv, Haoyang Gao, Yujie Liu, Yue Song, Shengjun Wang, Yang Deng, Binjie Ouyang, Jinzhong Lin, Yingjia Yu, lynn Fink, Xianwei Yang, Xun Xu, Xin Liu

Subject: Biology And Life Sciences, Ecology, Evolution, Behavior And Systematics Keywords: Marine microorganisms, marine fungi, algae, marine plants, marine invertebrates, marine vertebrates, genome, metagenome

Online: 12 December 2018 (15:44:09 CET)

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Preprint ARTICLE | doi:10.20944/preprints202407.1356.v1

Comparative Analysis of Comprehensive Genomic Profile in Thymomas and Recurrent Thymomas Reveals Potentially Actionable Mutations for Target Therapies

Filippo Lococo, Elisa De Paolis, Jessica Evangelista, Andrea Dell’Amore, Diana Giannarelli, Marco Chiappetta, Annalisa Campanella, Carolina Sassorossi, Alessandra Cancellieri, Fiorella Calabrese, Emanuele Vita, Angelo Minucci, Emilio Bria, Angelo Castello, Andrea Urbani, Federico Rea, Stefano Margaritora, Giovanni Scambia

Subject: Medicine And Pharmacology, Oncology And Oncogenics Keywords: NGS; recurrent thymoma; surgery; CGP; gene profile; clinical trials

Online: 17 July 2024 (11:00:23 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202208.0337.v1

Mitochondrial Control Region Variants Related to Breast Cancer

Luis Enrique Hernández, Jorge Hermilo Vega Avalos, Laura Yareni Zuñiga, Maria Guadalupe Sánchez-Parada, Ana Elizabeth González Santiago, Luis Miguel Román Pintos, Rolando Castañeda Arellano, Luis Daniel Hernández Ortega, Arieh Roldan Mercado Sesma, Felipe de Jesús Orozco-Luna, Raul C. Baptista-Rosas

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: breast cancer; polymorphism; mitochondrial genomics; D310

Online: 18 August 2022 (10:17:28 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202011.0519.v1

AmazonForest: In-silico Meta-Prediction of Pathogenic Variants

Helber Palheta, Wanderson Gonçalves Gonçalves, Leonardo Miranda Brito, Arthur Ribeiro dos Santos, Marlon Matsumoto, Ândrea Kely Ribeiro-dos-Santos, Gilderlanio Santana Araújo

Subject: Biology And Life Sciences, Anatomy And Physiology Keywords: Meta-prediction; Encoding data; ClinVar; Classification; Random Forest; Naive Bayes; Support Vector Machine

Online: 19 November 2020 (16:43:51 CET)

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Preprint ARTICLE | doi:10.20944/preprints202403.0177.v1

Fluoxetine and Sertraline Potently Neutralize the Replication of Distinct SARS-CoV-2 Variants

Laura Thümmler, Nadine Beckmann, Caroline Sehl, Matthias Soddemann, Peer Braß, Maren Bormann, Leonie Brochhagen, Carina Elsner, Nicolas Hoertel, Céline Cougoule, Sandra Ciesek, Marek Widera, Ulf Dittmer, Monika Lindemann, Peter A. Horn, Oliver Witzke, Stephanie Kadow, Markus Kamler, Erich Gulbins, Katrin Anne Becker, Adalbert Krawczyk

Subject: Biology And Life Sciences, Virology Keywords: SARS-CoV-2; antidepressants, COVID-19

Online: 4 March 2024 (19:12:30 CET)

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Working Paper REVIEW

Discoveries and Biological Implications of Mammalian 45S rDNA Variants and Non-Structural rRNAs

Yih-Horng Shiao

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: Ribosomal DNA; ribosomal RNA; mammalian genome; intra- and inter-individual variations; development; diseases.

Online: 26 February 2021 (11:35:55 CET)

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Preprint ARTICLE | doi:10.20944/preprints202403.1473.v1

Uncovering Pathogenic Variants in Cancer Susceptibility Genes through Genetic Testing for Pancreatic Cancer Patients

Kevisa Potska, Anastasia Katseli, Konstantinos Agiannitopoulos, Christina Ntogka, Georgios N. Tsaousis, Nikolaos Tsoulos, Adina Emilia Croitoru, Dimitrios Ziogas, Maria Theochari, Christos Christodoulou, Epaminondas Samantas, Dimitrios Janninis, Ilias Athanasiadis, Angelos Koutras, Eirini Papadopoulou, Onder Kirca, Muharrem Okan Cakir, Gholam Hossein Ashrafi, George Nasioulas, Mustafa Ozdogan

Subject: Medicine And Pharmacology, Oncology And Oncogenics Keywords: Hereditary; Pancreatic cancer; Next Generation Sequencing (NGS)

Online: 25 March 2024 (09:58:18 CET)

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Preprint REVIEW | doi:10.20944/preprints202403.0424.v1

Genomic Atlas 2.0 Emerging Strategies and Technologies in Advanced Genetic Mapping

Mohammad Odah

Subject: Biology And Life Sciences, Biology And Biotechnology Keywords: Genomic atlas 2.0; advanced genetic mapping; high-throughput sequencing; long-read sequencing technologies; spatial genomics; CRISPR technologies; integrative genomic mapping

Online: 8 March 2024 (03:57:26 CET)

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