194 papers
Genetics is the fascinating study of how traits are passed down and how our DNA shapes everything from eye color to disease risk. At Gist.Science, we bring you the very latest discoveries in this dynamic field directly from bioRxiv, the leading preprint server for biology. Because these findings appear months before formal publication, staying updated requires sifting through complex data that often feels inaccessible to non-specialists.
To bridge that gap, our team processes every new genetics preprint uploaded to bioRxiv, transforming dense scientific reports into clear, plain-language explanations alongside detailed technical summaries. This dual approach ensures that whether you are a seasoned researcher or simply curious about how genes work, you can grasp the core insights without getting lost in jargon. Below are the latest papers in genetics, curated and simplified for your reading.
This study demonstrates that congenital disorders of glycosylation and deglycosylation in zebrafish significantly impair sperm quality by reducing concentration, motility, and membrane integrity, thereby modeling the mechanisms behind human male infertility caused by these genetic defects.
This paper establishes that the low effective genomic dimensionality (Me) of small-Ne livestock populations imposes a fundamental ceiling on the power of full-genomic relationship matrix GWAS to detect individual SNPs and resolve fine-mapping, explaining why these methods yield few significant peaks compared to alternative approaches while simultaneously enabling high genomic prediction reliability.
This study presents a novel, mechanism-informed, structure-based predictor for SMARCA4 helicase variants that achieves 100% recall of pathogenic mutations and successfully reclassifies the majority of variants of uncertain significance into damaging or tolerated categories, thereby providing a robust framework for understanding the molecular basis of neurodevelopmental disorders and guiding therapeutic development.
This study challenges the universal protective view of the APOE ε2 allele by demonstrating that in admixed Brazilian elderly populations, local African ancestry acts as a genetic buffer that attenuates both the longevity benefits of ε2 and the mortality risks of ε4, leading to context-dependent deviations from Hardy-Weinberg equilibrium that vary between post-mortem and census-based cohorts.
This study introduces nanoASM, a long-read nanopore sequencing framework that enables allele-specific methylation profiling in human prostate tissues to functionally annotate noncoding regulatory variants by linking germline genetic differences to epigenetic alterations, chromatin states, and gene expression changes in both normal and tumor contexts.
The paper introduces LT-FGRS, a unified R-package that efficiently estimates per-individual genetic liabilities from large-scale family data by integrating multiple state-of-the-art methods into a single framework, as validated by benchmarks on Nordic registry data.
This study identifies distinct genetic resistance mechanisms in wheat against the necrotrophic pathogens *Parastagonospora nodorum* and *Pyrenophora tritici-repentis*, revealing a major QTL for tan spot resistance on chromosome 1B and multiple minor loci for Septoria nodorum blotch resistance, while confirming that effective defense involves different strategies such as susceptibility avoidance and physical barriers.
This study identifies the histone lysine demethylases JMJD-1.2 and JMJD-3.1, along with the potassium channel protein TWK-14, as novel genetic suppressors that naturally protect against -synuclein-induced dopaminergic neurodegeneration in *C. elegans* by modulating the mitochondrial unfolded protein response pathway.
This study utilized a genome-wide association study in a diverse rainbow trout line to identify novel genomic regions linked to viral haemorrhagic septicaemia resistance, followed by in vitro CRISPR-Cas9 validation revealing that the paralog of the lrp1 gene modulates the inflammatory response during infection rather than serving as an essential viral entry receptor.
This paper presents a collaborative submission model, exemplified by CZ CELLxGENE Discover, which successfully scales the creation of high-quality biomedical data resources by partnering data contributors with dedicated curators to balance corpus size with metadata richness and quality.