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.
CanVar-UK is a freely accessible online platform that supports the collaborative interpretation of germline variants in cancer susceptibility genes by aggregating diverse variant-level data, linking to clinical databases, and facilitating diagnostic discussions among a growing international community of users.
The paper introduces gnomAD v4, a massive database of 807,162 individuals, alongside refined loss-of-function annotation and a novel Bayesian framework integrating clinical literature to significantly enhance gene discovery and rare disease diagnosis.
This integrative systematic review and meta-analysis synthesizes data from 31 studies to characterize the general population's preferences for expanded carrier screening program attributes and estimates a median willingness-to-pay of $107, despite noting a high risk of bias in most included studies.
This study demonstrates that FTA Elute technology enables reliable, rapid, and cost-effective prenatal diagnosis of sickle cell disease via amniocentesis in resource-limited settings like Kinshasa, while also characterizing the socioeconomic and genetic profiles of the couples seeking these services.
This study presents an in silico framework demonstrating that integrating polygenic risk scores into clinical trial designs to enrich for high-risk participants significantly improves statistical power, reduces required sample sizes, and accelerates event accrual across various disease contexts, though optimal enrichment thresholds must be balanced against population availability.
The paper introduces S-MiXcan, a scalable summary-statistics-based framework that infers cell-type-specific transcriptome-wide associations from bulk transcriptomics and GWAS data by jointly modeling genetically regulated expression across multiple cell types without requiring individual-level data.
This study demonstrates that blood-based RNA sequencing of 5,412 individuals with rare diseases in the National Genomic Research Library successfully identifies clinically relevant diagnostic candidates by detecting expression and splicing outliers across a diverse range of disorders.
This study identifies a novel association between genetic variants in the autophagy gene ATG4B and asthma using UK Biobank GWAS data, suggesting ATG4B as a potential target for future drug development.
This pilot genome-wide association study in a Kazakh cohort identifies two genome-wide significant loci (UGT1A and ACTR3C) and prioritizes the CSMD1 gene as candidates for ischemic heart disease with co-occurring arterial hypertension, highlighting the need for replication in larger Central Asian populations.
This study utilizes genomic structural equation modeling on a large European cohort to identify distinct genetic architectures for the personality meta-traits of stability and plasticity, revealing 81 and 13 significant loci respectively and demonstrating a bi-directional genetic relationship where higher stability protects against psychopathology.