121 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 presents a single-cell long-read RNA-sequencing atlas of the human lung from 129 never-smoking Korean women, demonstrating that isoform-level analysis reveals cell-type-specific genetic regulation and unannotated variants that improve disease risk prediction beyond traditional gene-level expression data.
This study reveals that the transcription termination factor Ppn1 actively preserves quiescent chromatin integrity by preventing cohesin eviction, thereby ensuring faithful cell-cycle re-entry and defining a structural limit to cellular longevity.
This study constructed a single-cell lung eQTL dataset from 129 Korean never-smokers to identify East Asian-specific and alveolar cell-driven susceptibility genes for lung cancer, experimentally validating the role of TCF7L2 in lung adenocarcinoma growth.
This study demonstrates that the local genomic estimated breeding values (localGEBV) method, which aggregates marker effects within linkage disequilibrium blocks, outperforms traditional genome-wide association studies in discovering quantitative trait loci and predicting phenotypes for complex traits like barley row type.
This study identifies SET-19 as a somatic-specific H3K23 methyltransferase in *C. elegans* that deposits the H3K23me3 mark at heterochromatic regions to repress gene expression and regulate development, without affecting germline RNAi or transgenerational epigenetic inheritance.
This study reveals that granulin deficiency drives the lysosomal accumulation of a pathogenic TMEM106B C-terminal fragment, a process mitigated by protective TMEM106B alleles through dimerization and reversible by progranulin supplementation, thereby elucidating the mechanistic link between these genes in frontotemporal dementia.
Genome-wide analysis of 209 ancient individuals from the eastern Colombian Andes reveals that a subsistence transition to maize cultivation occurred without population replacement among long-standing local hunter-gatherers, while a distinct genetic turnover associated with the emergence of the Herrera culture approximately 2,200 years ago was driven by the migration of new groups with mixed Amazonian and Chibchan-related ancestry.
This study elucidates the shared genetic architecture of ten uterine disorders by identifying 31 independent susceptibility loci and demonstrating that recent human evolution has favored derived alleles that increase risk across multiple conditions, likely due to antagonistic selection.
This study utilized bioinformatics analysis of GEO datasets to identify and validate PCSK5, ZNF225, and H1FX as novel monocyte-associated diagnostic biomarkers for osteoporosis in women, while also characterizing their upstream transcriptional regulators.
This paper presents a comprehensive comparative dataset for 19 Caribbean tree species, integrating high-density SNP genetic data from SLAF-seq with functional traits, geographic distributions, and climatic associations to address the scarcity of genetic information in tropical biodiversity hotspots.