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363,000+ bioRxiv and medRxiv preprints, including those later published in peer-reviewed journals, across 26 biological disciplines.
Recent preprints
- GeneticsbioRxivPreprint
Genetic Association Studies in Transgender Cohorts: A Systematic Review and Meta-Analysis
Blake Ashley, Vincent R. Harley
This study conducts a meta-analysis of genetic association studies in transgender cohorts, finding a significant overrepresentation of short ESR1 alleles in transgender women compared to cisgender men.
5 citations - GeneticsiSciencePeer-reviewed
Mutating novel interaction sites in NRP1 reduces SARS-CoV-2 spike protein internalization
Debjani Pal, Kuntal De, Timothy B. Yates…·Wellington Muchero
This study shows mutating specific cysteine residues in NRP1 reduces SARS-CoV-2 spike protein internalization and viral load in human cells.
11 citations - GeneticsbioRxivPreprint
SNP discovery and analysis of genetic diversity between commercial crossbred and indigenous chickens from three different agro-ecological zones using DArT-Seq technology
K. Adomako, Selorm Sovi, Bismark Kyei…·Samuel E. Aggrey
The paper uses DArT-Seq to discover SNPs and analyze genetic diversity between indigenous and commercial chickens in Ghana, finding significant population structure and genetic divergence.
DOI 10.1101/2023.02.23.529829 - GeneticsNature GeneticsPeer-reviewed
Network expansion of genetic associations defines a pleiotropy map of human cell biology
Inigo Barrio‐Hernandez, Jeremy Schwartzentruber, Anjali Shrivastava…·Pedro Beltrão
The paper uses network-based expansion of GWAS results to identify pleiotropic gene modules linked to multiple traits and demonstrates their application in studying inflammatory bowel disease.
86 citationstop 1% - GeneticsMetabarcoding and MetagenomicsPeer-reviewed
Maximizing the reliability and the number of species assignments in metabarcoding studies
Audrey Bourret, Claude Nozères, Eric Parent, Geneviève J. Parent
This study improves species assignment reliability and detection in metabarcoding by combining a regional library with a public repository and optimal assignment methods.
25 citations - GeneticsbioRxivPreprint
Pleiotropic contribution of rbfox1 to psychiatric and neurodevelopmental phenotypes in a zebrafish model
Ester Antón-Galindo, Maja R. Adel, Judit García‐González…·Bru Cormand
This study investigates the behavioral effects of rbfox1 deficiency in zebrafish, finding multiple behavioral changes that resemble those in Rbfox1-deficient mice and psychiatric patients.
3 citations - GeneticsHuman Molecular GeneticsPeer-reviewed
Systematic assessment of the contribution of structural variants to inherited retinal diseases
Shu Wen, Meng Wang, Xinye Qian…·Rui Chen
This study identifies 16 pathogenic structural variants in 16 IRD families using whole-genome sequencing, finding SVs contribute 2.1% to unresolved IRD cases but less than SNVs and indels.
12 citations - GeneticsMicrobiology SpectrumPeer-reviewed
Epistasis between synonymous and nonsynonymous mutations in Dictyostelium discoideum ammonium transporter amtA drives functional complementation in Saccharomyces cerevisiae.
1 citation - GeneticsMolecular BiomedicinePeer-reviewed
In vivo adenine base editing corrects newborn murine model of Hurler syndrome
Jing Su, Xiu Jin, Kaiqin She…·Yang Yang
This study corrects a mutation in a mouse model of Hurler syndrome using in vivo adenine base editing, showing reduced GAG accumulation and neurobehavioral deficits.
12 citations - GeneticsbioRxivPreprint
A KASP Marker for the Potato Late Blight Resistance Gene RB/Rpi-blb1
Peyton L. Sorensen, Grace Christensen, Hari S. Karki, Jeffrey B. Endelman
The paper designs and validates a KASP marker for the potato late blight resistance gene RB/Rpi-blb1, showing 100% accuracy in a diversity panel.
- GeneticsGenes Brain & BehaviorPeer-reviewed
A genome-wide association study identified new variants associated with mathematical abilities in Chinese children
Liming Zhang, Zhengjun Wang, Zijian Zhu…·Jingjing Zhao
This study conducts GWAS on 11 mathematical ability categories in Chinese children, identifying 7 genome-wide significant SNPs and replicating one SNP associated with division ability.
9 citations - GeneticsCell ReportsPeer-reviewed
Extensive de novo activity stabilizes epigenetic inheritance of CG methylation in Arabidopsis transposons
David B. Lyons, Amy Briffa, Shengbo He…·Daniel Zilberman
The paper shows that de novo methylation stabilizes epigenetic inheritance of CG methylation in Arabidopsis transposons, counteracting maintenance failure.
25 citations - GeneticsFrontiers in Plant SciencePeer-reviewed
Extending the breeder's equation to take aim at the Target Population of Environments
Mark Cooper, Owen M. Powell, Carla Gho…·Carlos D. Messina
The paper discusses the importance of the MET-TPE relationship in genomic prediction for improving breeding outcomes in target populations of environments.
58 citationstop 1% - GeneticsPLoS GeneticsPeer-reviewed
Escape from X-inactivation in twins exhibits intra- and inter-individual variability across tissues and is heritable
Antonino Zito, Amy L. Roberts, Alessia Visconti…·Kerrin S. Small
The paper identifies X-linked genes that escape X-inactivation in twins across tissues, showing variability between individuals and suggesting genetic and environmental influences.
27 citationstop 4% - GeneticsbioRxivPreprint
Socio-cultural practices may have affected sexual dimorphism in stature in Early Neolithic Europe
Samantha L. Cox, Nicole Nicklisch, Michael Francken…·Iain Mathieson
The paper examines how socio-cultural practices influenced sexual dimorphism in stature among Early Neolithic European populations, finding that cultural factors, not environment or genetics, primarily drove height disparities.
1 citation - GeneticsbioRxivPreprint
The allotetraploid Nicotiana tabacum genome and GenBank genomics highlight the genomic features, genetic diversity and regulation of morphological, metabolic and disease-resistance traits
Yanjun Zan, Shuai Chen, Min Ren…·Aiguo Yang
This study presents a chromosome-scale genome assembly of Nicotiana tabacum, identifies genetic structure correlates, and builds a genotype-to-phenotype map for multiple traits using GenBank-scale data.
- GeneticsThe American Journal of Human GeneticsPeer-reviewed
Development of a novel oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia.
Elisabetta Morini, Anil K. Chekuri, Emily M. Logan…·Susan Slaugenhaupt
This paper develops an oral treatment, PTC258, that restores ELP1 splicing and improves symptoms in a mouse model of familial dysautonomia.
15 citations - GeneticsbioRxivPreprint
Hypoxia-inducible factor 2 is a key determinant of manganese excess and polycythemia in SLC30A10 deficiency
Milankumar Prajapati, Jared Z. Zhang, Courtney J. Mercadante…·Thomas Benedict Bartnikas
This study identifies HIF2 as a key driver of erythropoietin excess and polycythemia in SLC30A10 deficiency by linking manganese toxicity to altered hepatic gene expression and hepcidin regulation.
3 citations - GeneticsG3 Genes Genomes GeneticsPeer-reviewed
FLInt: Single Shot Safe Harbor Transgene Integration via Fluorescent Landmark Interference
Nawaphat Malaiwong, Montserrat Porta-de-la-Riva, Michael Krieg
FLInt enables efficient and safe transgene integration in C. elegans using fluorescent marker loci and CRISPR/Cas9, allowing easy screening through fluorescence interference.
29 citations