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 a large deletion in the *Pkhd1* locus causes congenital glaucoma in mice by disrupting the genomic architecture required for *Tfap2b* expression, thereby providing a causal mechanism for the previously observed association between *PKHD1* variants and primary open-angle glaucoma in humans.
The study demonstrates that eliminating maternally deposited DNA polymerase theta (Polθ) in zebrafish embryos prevents error-prone microhomology-mediated end-joining, thereby enabling highly efficient and error-free prime editing.
This study utilizes a high-density phased linkage map to demonstrate that double reduction occurs in approximately 12% of progenies in segmental allotetraploid peanut, causing unbalanced genomic compositions that contribute to genetic instability and evolutionary dynamics.
This study demonstrates that highly expressed, sex-biased genes in *Drosophila melanogaster*—particularly those in the testes—preferentially and non-randomly utilize specific non-optimal codons, a pattern that correlates with increased protein disorder and suggests a selective mechanism for regulating translation and protein folding.
The study concludes that the previously reported egg-laying and locomotion defects in *sms-1(ok2399)* mutants are likely due to an unintended background mutation rather than the loss of sphingomyelin synthase-1, as additional *sms-1* deletion mutants showed no such behavioral deficits.
By analyzing genetic and health data from approximately 390,000 individuals, this study identifies specific genomic loci that enhance statin effectiveness in lowering LDL cholesterol and reveals additional genetic targets for future drug development, thereby advancing the goal of personalized medicine for hyperlipidemia.
This study introduces a federated conditional analysis framework that effectively distinguishes independent rare variant signals from linkage disequilibrium artifacts in multi-ancestry biobank meta-analyses, revealing that DNAJC13 haploinsufficiency and specific LDLR variants significantly lower LDL-C levels.
This study characterizes the genetic diversity and population structure of 2,555 tropical maize doubled haploid lines using genome-wide SNP markers, revealing two distinct heterotic clusters with substantial within-group variation that establish a robust resource for accelerating genetic gain in breeding programs.
This study uses simulations to demonstrate that a species' demographic history, particularly population expansions, critically shapes the genetic architecture of local adaptation by influencing the number and frequency of adaptive alleles and modulating the confounding effects of population structure in genotype-environment association analyses.
This paper introduces a new method based on an efficient algorithm for computing pairwise coalescent times to infer fine-resolution asymmetric migration rates, thereby revealing complex gene flow patterns and refining the understanding of geographic genetic structure across diverse species.