162 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.
This study introduces an extended polygenic risk score (ePRS) framework that incorporates non-additive multilocus interactions and gene-environment effects to significantly improve genetic risk prediction for complex diseases like type 2 diabetes and celiac disease by capturing high-risk individuals missed by traditional additive models.
A genome-wide association study of 94,730 Chinese adults from the China Kadoorie Biobank identified 19 independent copy number variant associations across 15 loci influencing anthropometric and cardiometabolic traits, including novel findings and replicated dosage-sensitive regions, thereby expanding the genetic understanding of these traits in East Asian populations.
In a cross-sectional analysis of 738,531 participants from the UK Our Future Health study, researchers found that while every individual carries at least one actionable pharmacogenomic phenotype, 36.8% have been dispensed a matching medicine, with co-occurrence rates increasing with age and concentrating in widely prescribed drug classes like proton-pump inhibitors, antidepressants, and statins, thereby highlighting significant opportunities for optimizing treatment through pre-emptive pharmacogenomic testing.
This bioinformatic study identifies that while uveal and cutaneous melanomas share only two common genetic variations (rs12203592 in IRF4 and rs12913832 in HERC2), these mutations exhibit distinct prognostic implications, with IRF4 serving as a key prognostic indicator for both cancers and HERC2 acting as a poor prognostic factor specifically in uveal melanoma.
This study introduces the publicly accessible "ACE mutations–AD browser," a comprehensive database classifying 1,682 ACE variants and estimating that approximately 1 in 25 individuals carries damaging mutations linked to reduced blood ACE levels, suggesting ACE deficiency may be a significant, underrecognized contributor to late-onset Alzheimer's disease susceptibility.
The paper introduces FELIX, a scalable framework that enables local-ancestry-aware genetic association analysis across diverse biobank populations without requiring discrete ancestry assignment, thereby retaining excluded admixed participants and significantly increasing the discovery of genetic loci and predictive accuracy compared to conventional methods.
This study of the Sarcomeric Human Cardiomyopathy Registry (SHaRe) demonstrates that periodic reevaluation of genetic variants in hypertrophic cardiomyopathy patients leads to clinically meaningful reclassifications in 10% of cases, revealing that most variants of uncertain significance are unlikely to be causal and highlighting the necessity of ongoing curation for accurate clinical interpretation.
This study identifies novel candidate genes and variants for spliceosomopathies by analyzing rare variants in protein-coding genes, snRNAs, and prioritized snRNA pseudogenes within a large rare disease cohort, thereby expanding the known genetic etiology of splicing-related disorders.
This study leverages multi-ancestry admixture mapping in the UK Biobank to identify novel ancestry-associated disease loci and refine causal variants, demonstrating that distinct genetic pathways can underlie the same clinical phenotype across different ancestral backgrounds.
This study characterizes the genetic landscape of Parkinson's disease in a Chilean cohort of 461 patients, revealing that 12.6% carry pathogenic variants—predominantly the p.G2019S *LRRK2* mutation, which shows the highest frequency reported in South America and is enriched in individuals with Ashkenazi Jewish ancestry.