101 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 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.
This study employs a genetic epidemiological pipeline to identify candidate biomarkers and establish causal links between clozapine metabolism and metabolic dysfunction, offering a foundation for predictive, precision medicine approaches to mitigate clozapine-induced metabolic risks.
TumorLens is a unified long-read sequencing framework that simultaneously detects diverse genetic and epigenetic alterations, including SNVs, structural variants, copy-number changes, and methylation patterns, to enable comprehensive tumor profiling and advance precision oncology.
This study utilizes a multi-ancestry trio-based whole-genome sequencing approach to identify four genome-wide significant loci, including novel subtype-specific associations for alveolar involvement and left-sidedness, thereby demonstrating the value of granular phenotypic characterization in uncovering distinct genetic etiologies within isolated cleft lip.
This study utilizes clustered Mendelian randomization to reveal that major depressive disorder comprises distinct genetic subtypes with opposing causal effects on type 2 diabetes and cardiometabolic health, where one cluster linked to atypical symptoms increases metabolic risk while another linked to melancholic symptoms decreases it.