Discover, rate, and discuss biology preprints.
363,000+ bioRxiv and medRxiv preprints, including those later published in peer-reviewed journals, across 26 biological disciplines.
Recent preprints
- GeneticsG3 Genes Genomes GeneticsPeer-reviewed
New alleles of D-2-hydroxyglutarate dehydrogenase enable studies of oncometabolite function in Drosophila melanogaster
Madhulika Rai, Prince Okah, Shefali A. Shefali…·Jason M. Tennessen
The paper generates two novel D2hgdh loss-of-function mutations in Drosophila to study D-2HG accumulation and its effects on development and metabolism.
DOI 10.1093/g3journal/jkaf132 - GeneticsCurrent BiologyPeer-reviewed
Dynamic Control of Argonautes by a Rapidly Evolving Immunological Switch
Chee Kiang Ewe, Guy Teichman, Shir Weiss…·Oded Rechavi
The paper identifies PALS-22 as a regulator of AGO expression in C. elegans, showing its role in balancing immunity and germline health through modulation of RNAi and epigenetic inheritance.
4 citations - GeneticsG3 Genes Genomes GeneticsPeer-reviewed
diplo-locus: A lightweight toolkit for inference and simulation of time-series genetic data under general diploid selection
Xiaoheng Cheng, Matthias Steinrücken
The paper introduces diplo-locus, a Python toolkit for simulating and inferring parameters from time-series genetic data under diploid selection models.
- GeneticsNature CommunicationsPeer-reviewed
Understanding indirect assortative mating and its intergenerational consequences for educational attainment
Hans Fredrik Sunde, Espen Moen Eilertsen, Fartein Ask Torvik
The paper develops a framework to estimate genetic and social homogamy using family data and finds that indirect assortative mating better explains educational attainment similarities than direct assortment.
11 citationstop 1% - GeneticsG3 Genes Genomes GeneticsPeer-reviewed
Phase-free local ancestry inference mitigates the impact of switch errors on phase-based methods
Siddharth Avadhanam, Amy L. Williams
This study compares phase-free and phase-based local ancestry inference methods, finding phase-free methods provide more accurate results despite lower phase quality.
- GeneticsPLoS ONEPeer-reviewed
Epigenetic responses in Borrelia-infected Ixodes scapularis ticks: Over-expression of euchromatic histone lysine methyltransferase 2 and no change in DNA methylation
Grace Hadley MacIntosh, Alexandra C. Nuyens, Jessica L. Vickery…·Vett K. Lloyd
This study examines epigenetic changes in Borrelia-infected ticks, finding increased EHMT2 expression but no change in DNA methylation of specific repeats.
3 citations - GeneticsPlant CommunicationsPeer-reviewed
Transposon activities drive the selection and diversification of sweet orange (Citrus sinensis) cultivars in the last 500 years
Bo Ming Wu, Yiping Cui, Yongping Duan…·Feng Luo
This study identifies transposon activities as key drivers of sweet orange cultivar selection and diversification over the last 500 years.
- GeneticsG3 Genes Genomes GeneticsPeer-reviewed
Near 100% efficient homology-dependent genome engineering in the human fungal pathogen Cryptococcus neoformans
Matthew J. Nalley, Sanjita Banerjee, Manning Y. Huang, Hiten D. Madhani
The paper describes a high-efficiency method for homology-dependent genome editing in Cryptococcus neoformans using CRISPR/Cas9 and a Ku80 mutant strain.
7 citations - GeneticsProceedings of the National Academy of SciencesPeer-reviewed
Study design and the sampling of deleterious rare variants in biobank-scale datasets
Margaret C. Steiner, Daniel P. Rice, Arjun Biddanda…·John Novembre
This paper investigates how geographic breadth of sampling affects the discovery and frequency of rare, deleterious variants in genetic studies.
5 citations - GeneticsProceedings of the National Academy of SciencesPeer-reviewed
Diencephalic and Neuropeptidergic Dysfunction in Zebrafish with Autism Risk Mutations
Mary ES Capps, Anna J. Moyer, Claire L Conklin…·Summer B. Thyme
This study identifies diencephalic and neuropeptidergic dysfunction in zebrafish with autism-risk mutations, revealing potential molecular and behavioral mechanisms.
20 citationstop 2% - GeneticsEuropean Journal of Human GeneticsPeer-reviewed
An application of the MR-Horse method to reduce selection bias in genome-wide association studies of disease progression
Killian Donovan, Jason Torres, Doreen Zhu…·Natalie Staplin
The paper applies the MR-Horse method to reduce selection bias in GWAS of disease progression by accounting for genetic correlation and pleiotropy, showing reduced bias and controlled type 1 error rates.
2 citations - GeneticsCurrent BiologyPeer-reviewed
Molecular and genetic characterization of sex-linked orange coat color in the domestic cat
Christopher B. Kaelin, Kelly A. McGowan, Joshaya C. Trotman…·Gregory S. Barsh
The paper identifies a 5 kb deletion causing Sex-linked orange coat color in cats by ectopic Arhgap36 expression, which inhibits PKA and disrupts melanogenic pathways downstream of Mc1r.
- GeneticsTheoretical Population BiologyPeer-reviewed
Exact calculation of the expected SFS in structured populations
Armando Arredondo, Josué M. Corujo, Camille Noûs…·Olivier Mazet
The paper presents an algorithm to calculate the expected Site Frequency Spectrum (SFS) in structured populations, enabling demographic parameter inference in the symmetrical n-island model.
DOI 10.1016/j.tpb.2025.03.003 - GeneticsCell ReportsPeer-reviewed
Physiological role and mechanisms of action for a long noncoding haplotype region
Hong Xue, Manoj K. Mishra, Yong U. Liu…·Mingyu Liang
The paper investigates the physiological role and mechanisms of a noncoding haplotype associated with blood pressure by combining animal models, genome editing, and chromatin analysis.
- GeneticsCellPeer-reviewed
Rewriting regulatory DNA to dissect and reprogram gene expression
Gabriella E. Martyn, Michael T. Montgomery, Hank Jones…·J Engreitz
The paper introduces Variant-FlowFISH to measure the effects of DNA sequence variants on gene expression, identifies regulatory mechanisms, and benchmarks predictive models.
49 citationstop 3% - GeneticsGenomics Proteomics & BioinformaticsPeer-reviewed
clusIBD: Robust Detection of Identity-by-descent (IBD) Segments Using Unphased Genetic Data from Poor-quality DNA Samples
Ran Li, Yu Zang, Zhentang Liu…·Hongyu Sun
clusIBD detects IBD segments from poor-quality DNA samples with high genotype errors, outperforming existing tools in simulated and ancient DNA data.
- GeneticsThe Plant GenomePeer-reviewed
Identification of significant genome-wide associations and QTL underlying variation in seed protein composition in pea (Pisum sativum L.)
Ahmed O. Warsame, Janneke Balk, Claire Domoney
This study identifies genetic loci associated with seed protein composition in pea using GWAS and QTL mapping, revealing overlapping regions and candidate genes involved in protein biosynthesis and modification.
10 citationstop 4% - GeneticsBiometrical JournalPeer-reviewed
A new inverse probability of selection weighted Cox model to deal with outcome-dependent sampling in survival analysis
Vera H. Arntzen, Marta F. Fiocco, Inge M. M. Lakeman…·Mar Rodríguez‐Girondo
The paper introduces a new inverse probability of selection weighted Cox model to correct for outcome-dependent sampling bias in survival analysis, demonstrating its effectiveness through simulations and real datasets.
2 citations - GeneticsGenes Brain & BehaviorPeer-reviewed
Differing genetics of saline and cocaine self administration in the hybrid mouse diversity panel
Arshad H. Khan, Jared Robert Bagley, Nathan LaPierre…·Desmond J. Smith
The paper identifies genetic loci associated with saline self-administration in mice, finding distinct genetic bases compared to cocaine self-administration.
DOI 10.1111/gbb.70029