208 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 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.
This study analyzed longitudinal data from 331 individuals with Angelman syndrome using the Vineland-3 to reveal that while adaptive functioning improves nonlinearly throughout the lifespan, individuals with deletion subtypes consistently demonstrate lower functioning across all domains compared to those with non-deletion subtypes.
This study demonstrates that while incorporating weak instrumental variables in two-sample Mendelian randomization is generally acceptable with large exposure GWAS sample sizes, it risks attenuating effect estimates and falsely concluding null associations when sample sizes are small.
This paper introduces FunGen-xQTL Multi-Brain (FGMB), a comprehensive multi-context regulome-wide association atlas that integrates diverse molecular datasets and advanced prediction methods to prioritize causal gene-trait associations for aging brain disorders like Alzheimer's disease by distinguishing regulatory effects from linkage disequilibrium.
This study conducted a phenome-wide association study in over 104,000 Finnish men to investigate Y-chromosomal variation in complex diseases, identifying a significant link between haplogroup I1 and coronary heart disease despite finding no other phenome-wide significant associations.
This study integrates genome-wide association and single-cell transcriptomic analyses to identify shared genetic loci between Parkinson's disease and schizophrenia, revealing that the RAI1 gene links both disorders through mitochondrial dysfunction while highlighting distinct genetic pathways associated with non-motor symptoms.
By integrating genome-wide association study data for body fat distribution with subcutaneous adipose tissue expression quantitative trait loci through colocalization analysis, this study identifies SNX10, DGKQ, and CBX3 as high-confidence causal genes underlying genetic risk for obesity-related cardiometabolic diseases.
This study establishes the first genome-wide association and multi-omics framework for foveal hypoplasia, identifying 54 effector genes, validating six through zebrafish models, and revealing critical roles for Müller glia and pleiotropic links to systemic traits.
This study introduces a deconvolution-informed framework to analyze cell-type-specific DNA methylation and gene expression in normal colon tissues, identifying novel risk loci, prioritizing candidate genes with multi-omics evidence, and revealing potential therapeutic targets for colorectal cancer.
To address the fragmentation of multi-omic imputation models, the authors developed OmicsPred, a centralized platform that unifies over 3.3 million genetic prediction models with standardized metadata and formats to facilitate findability, interoperability, and systematic target discovery.