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 reveals significant discordance between plasma and brain protein quantitative trait loci (pQTLs), demonstrating that while circulating pQTLs effectively capture systemic and immune pathways, tissue-specific data is crucial for accurately interpreting brain-related protein associations and prioritizing therapeutic targets.
The paper introduces MCNV2, an R package that utilizes Mendelian inheritance patterns in parent-offspring trios to compute Mendelian Precision as a standardized, reproducible metric for assessing and optimizing the quality of copy number variation calls.
This paper introduces Knowledge Inclusive Machine Learning (KIML), a novel paradigm that integrates experimental data with literature-derived and structured biomedical knowledge to significantly improve the accuracy, interpretability, and generalizability of disease gene prioritization compared to existing methods.
This study demonstrates that integrating multi-year, fine-scale genetic sampling is essential for accurately characterizing the temporally variable population structure of juvenile southern flounder, revealing distinct Gulf and Atlantic stocks while highlighting inconsistent genetic differentiation within regions that single-year or broad-scale surveys might miss.
By applying multiple X-chromosome-wide association study models to dietary intake data from up to 445,773 UK Biobank participants, researchers identified 18 novel genetic loci, demonstrating that incorporating the X chromosome with diverse analytical approaches reveals significant genetic influences on eating behaviors that traditional methods often miss.
This paper proposes a new model called Catastrophic IntraChromosomal Recombination (CICR) to explain how unresolved replication forks in the ribosomal DNA of aging yeast lead to massive, toxic chromosomal instability that contributes to variability in lifespan.
This study introduces a modified massively parallel reporter assay (MPRA) framework that tests enhancer variants alongside their native promoters to comprehensively map the functional impact of 1,214 CYP3A4 regulatory variants, revealing a subset with significant effects on drug response and cancer severity while establishing a generalizable strategy for studying enhancer-promoter interactions.
By utilizing a *Drosophila* eye model to screen FDA/EMA-approved compounds, researchers identified that modulating dopamine signaling and cyclooxygenase pathways can rescue the small eye phenotype and alleviate neurological symptoms in PIGA-CDG, offering promising repurposed therapeutic candidates for this currently untreatable disorder.
The paper introduces Genetic Probabilistic Circuits (GPC), a tractable deep generative model based on hidden Chow-Liu trees that outperforms existing methods in generating accurate artificial genomes and imputing genotypes while better preserving data privacy.
This study simulates breeding scenarios to demonstrate that optimizing cryobank management requires tailoring sampling strategies to specific goals, where recent samples favor genetic progress in selected populations while older, diverse samples are crucial for conserving genetic variability and minimizing inbreeding, ultimately supporting continuous collection enrichment and the use of optimal contribution selection.