147 papers
Genetic and genomic medicine explores how our DNA shapes health, disease risk, and responses to treatment. This rapidly evolving field moves beyond simple family trees to examine the complex molecular instructions that guide every cell in the human body. By decoding these biological blueprints, researchers aim to unlock personalized therapies that target the root causes of illness rather than just treating symptoms.
On Gist.Science, we bring the latest discoveries directly from medRxiv, the leading preprint server for health sciences. We process every new submission in this category as it arrives, transforming dense academic findings into both detailed technical breakdowns and clear, plain-language summaries. This ensures that groundbreaking research is accessible to clinicians, scientists, and curious readers alike without the usual barriers of jargon.
Below are the most recent papers in genetic and genomic medicine, organized for your review.
By leveraging long-read sequencing to construct a comprehensive pangenome of 14 mucin family members, this study resolves their complex structural variations and population stratification, ultimately identifying a significant association between short MUC1 VNTRs and severe cystic fibrosis.
This study identifies 44 independent genetic signals across 39 loci influencing pulmonary artery diameter in over 50,000 individuals, revealing a polygenic architecture that bridges rare-variant pulmonary hypertension biology with common-variant systemic vascular biology through prioritized effector genes involved in vascular remodeling and development.
This study demonstrates that major depressive disorder comprises biologically distinct subtypes defined by the directionality of neurovegetative symptoms, revealing that the "atypical" subtype (characterized by hypersomnia and weight gain) is genetically differentiated from the "typical" subtype by stronger heritability and specific associations with metabolic traits.
This study reveals that PD-L1 genomic gains in EBV-positive DLBCL drive a spatial immune evasion architecture where T cells accumulate near tumor cells but are functionally excluded and suppressed by cancer-associated fibroblasts and metabolic constraints, preventing effective anti-tumor immunity.
This mixed-methods study demonstrates that ambient AI adoption significantly reduces burnout among genetic counselors by alleviating documentation burdens, while also highlighting critical implementation challenges and ethical considerations necessary for its responsible integration into clinical genomic medicine.
By analyzing high-resolution HLA variation across 390,823 diverse participants in the All of Us Research Program, this study demonstrates that while many HLA-disease associations appear ancestry-specific due to differences in allele frequency and statistical power, the underlying biological architecture and effect directions are largely shared across genetic ancestries.
The paper introduces scEPS, a novel method that integrates GWAS and single-cell atlas data to identify disease-associated cell neighborhoods by testing if prioritized genes explain more disease variance than controls, thereby revealing distinct biological mechanisms underlying both symptomatic and preclinical disease states across neurological and respiratory disorders.
This study integrates population-scale imaging and genetic analyses to reveal that knee alignment is partially genetically determined by pathways related to skeletal development and cartilage biology, with evidence suggesting that osteoarthritis susceptibility influences alignment rather than alignment being a primary causal driver of osteoarthritis risk.
This study integrates genomic and proteomic analyses of over 72,000 Norwegian children to reveal that childhood stature is governed by distinct, stage-specific genetic and metabolic mechanisms that independently influence adult height and increase the risk of type 2 diabetes.
This study identifies the rare GCH1 p.Ser80Asn variant as a significant risk factor for Parkinson's disease specifically enriched in East Asian populations, where it is associated with an increased odds ratio of 5.1 and a clinical phenotype often including dystonia.