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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
Harnessing Stress: balancing the Burden of Slightly-Deleterious Variants by a Handicap
Victor Shamanskiy, Konstantin Yu. Popadin
The paper shows that organisms with fewer slightly-deleterious variants are more likely to survive stress, leading to purifying selection on populations.
DOI 10.1101/2024.01.25.577025 - GeneticsbioRxivPreprint
Evolution, diversity, function, and marker-based elimination of the disease susceptibility gene Snn1 in wheat
Sudeshi Seneviratne, Gongjun Shi, Ágnes Szabó-Hevér…·Justin D. Faris
The paper identifies mutations in Snn1 genes that affect susceptibility to Septoria nodorum blotch and develops markers to eliminate these genes for improved wheat resistance.
- GeneticsbioRxivPreprint
A naive piRNA Surveillance System That Broadly Monitors the Germline Transcriptome for Adaptive Genome Defense
Keisuke Shoji, Yukihide Tomari
The paper identifies a naive piRNA surveillance system that broadly monitors the germline transcriptome for newly invading elements, showing it is abundance-coupled and independent of canonical piRNA pathways.
- GeneticsG3 Genes Genomes GeneticsPeer-reviewed
The unfolded protein response of the endoplasmic reticulum protects Caenorhabditis elegans against DNA damage caused by stalled replication forks
Jiaming Xu, Brendil Sabatino, Junran Yan…·Stefan Taubert
This study shows that depletion of DNA primases in C. elegans activates the endoplasmic reticulum unfolded protein response (UPR-ER), which is required to alleviate replication stress.
6 citations - GeneticsbioRxivPreprint
Bridge RNAs direct modular and programmable recombination of target and donor DNA
Matthew G. Durrant, Nicholas Thomas Perry, James J. Pai…·Patrick D. Hsu
The paper demonstrates that IS110 insertion sequences use a structured RNA to direct sequence-specific DNA recombination, enabling modular genome editing.
- GeneticsbioRxivPreprint
Large-Scale COI Gene Data Analysis for the Development of a Gel-Based Multiplex PCR Test Capable of Identifying Biting Midge Vector Species and Haplotypes (Diptera: Ceratopogonidae) of the Culicoides subgenus Avaritia Fox, 1955
Oliver Dähn, Doreen Werner, Bruno Mathieu, Helge Kampen
The paper develops a multiplex PCR test using COI gene data to identify biting midge species and clades, achieving high sensitivity for Culicoides subgenus Avaritia.
- GeneticsG3 Genes Genomes GeneticsPeer-reviewed
Gene expression variation underlying tissue-specific response to copper stress in Drosophila melanogaster
Elizabeth R. Everman, Stuart J. Macdonald
The paper investigates tissue-specific gene expression responses to copper stress in Drosophila melanogaster using differential expression analysis and eQTL mapping across 96 inbred strains.
4 citations - GeneticsScientific ReportsPeer-reviewed
A reduced SNP panel optimised for non-invasive genetic assessment of a genetically impoverished conservation icon, the European bison
Gerrit Wehrenberg, Małgorzata Tokarska, Berardino Cocchiararo, Carsten Nowak
This paper develops a SNP panel for high-resolution genetic assessment of European bison, enabling accurate genotyping from non-invasive samples and supporting conservation efforts.
17 citationstop 4% - GeneticsbioRxivPreprint
Genetic characterisation of candidate ecdysteroid kinases in Drosophila melanogaster
Jack L. Scanlan, Charles Robin
This study investigates the function of two ecdysteroid kinase-like genes in Drosophila melanogaster using genetic approaches, finding that they may not directly inactivate ecdysteroids but could have novel roles in development.
DOI 10.1101/2024.01.22.576657 - GeneticsbioRxivPreprint
The variation landscape of CYP2D6 in a multi-ethnic Asian population
Yusuf Maulana, Rodrigo Toro Jimenez, David Twesigomwe…·Mar Gonzàlez-Porta
The paper analyzes CYP2D6 variation in a multi-ethnic Asian cohort, identifying population-specific star alleles and actionable variants with implications for pharmacogenomics.
- GeneticsbioRxivPreprint
A general model for two-locus assortative mating analysis and prediction
This paper presents a general model for analyzing two-locus assortative mating, providing closed-form expressions for linkage and identity disequilibrium in human populations.
DOI 10.1101/2024.01.20.576388 - GeneticseLifePeer-reviewed
The role of heterochronic gene expression and regulatory architecture in early developmental divergence
Nathan D. Harry, Christina Zakas
The paper identifies gene expression changes and regulatory mechanisms underlying developmental divergence in the annelid Streblospio benedicti using RNAseq across ontogeny.
6 citations - GeneticsBiomedicinesPeer-reviewed
Resolving genotype-phenotype discrepancies of the Kidd blood group using nanopore sequencing
Morgan Gueuning, Gian Andri Thun, Nadine Trost…·Maja P. Mattle‐Greminger
This study uses nanopore sequencing to resolve genotype-phenotype discrepancies in the Kidd blood group system by detecting structural variants and novel alleles.
12 citations - GeneticsNature AgingPeer-reviewed
Causality-Enriched Epigenetic Age Uncouples Damage and Adaptation
Kejun Ying, Hanna Liu, Andrei E. Tarkhov…·Vadim N. Gladyshev
The paper introduces causality-enriched epigenetic clocks, DamAge and AdaptAge, to track detrimental and adaptive methylation changes linked to aging, showing their association with adverse outcomes and beneficial adaptations.
216 citationstop 1% - GeneticsbioRxivPreprint
Deep learning predicts DNA methylation regulatory variants in specific brain cell types and enhances fine mapping for brain disorders
Jiyun Zhou, Daniel R. Weinberger, Shizhong Han
This paper introduces a transformer-based model to predict cell type-specific DNA methylation regulatory variants and improves fine mapping for brain disorders.
1 citation - GeneticsbioRxivPreprint
Accurate inference of population history in the presence of background selection
Trevor Cousins, Daniel R. Tabin, Nick J. Patterson…·Arun Durvasula
This paper introduces PSMC+, an extension of the PSMC algorithm that accounts for background selection in demographic inference, improving accuracy in effective population size estimation.
14 citations - GeneticsThe American Journal of Human GeneticsPeer-reviewed
The shared ancestry between the C9orf72 hexanucleotide repeat expansion and intermediate-length alleles using haplotype sharing trees and HAPTK
Osma S. Rautila, Karri Kaivola, Harri Rautila…·Pentti J. Tienari
The paper uses haplotype sharing trees and HAPTK to show that intermediate-length C9orf72 repeat alleles share haplotypes with the hexanucleotide repeat expansion, suggesting they are potential premutation alleles.
5 citations - GeneticsNature CommunicationsPeer-reviewed
Leveraging single-cell ATAC-seq to identify disease-critical fetal and adult brain cell types
Samuel Sungil Kim, Buu Minh Thanh Truong, Karthik A. Jagadeesh…·Alkes L. Price
The paper integrates GWAS with scATAC-seq and scRNA-seq data to identify disease-critical fetal and adult brain cell types for multiple traits.
56 citationstop 2% - GeneticsHeredityPeer-reviewed
Comparative epigenetic and genetic spatial structure in Mediterranean mountain plants: a multispecific comparison
Javier Valverde, Mónica Medrano, Carlos M. Herrera, Conchita Alonso
The paper compares epigenetic and genetic spatial structures in Mediterranean mountain plants, finding that narrow endemics show lower epigenetic differentiation than widespread congeners.
4 citations