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.
This exome-wide association study of 54,698 South Asians identifies novel type 2 diabetes associations, including a protective rare variant in HNF4A and a risk-increasing variant in GP2, thereby highlighting the unique genetic architecture and biological mechanisms of the disease in this under-represented population.
This study benchmarks eight RNA-seq analysis tools using a truth set of 97 pediatric neuromuscular disease samples, finding that while splicing tools are most effective at confirming diagnoses, a combined approach including allelic imbalance analysis offers unique value but currently yields low diagnostic rates for undiagnosed cases, suggesting these tools are best used as complementary aids to manual DNA-based analysis.
This study re-analyzed whole-genome sequencing data from 12,519 individuals to reveal that specific human genetic variants, particularly those affecting carbohydrate availability like FUT2 and AMY1, significantly shape both oral microbiome composition and bacterial genetic variation, thereby influencing oral health outcomes such as tooth decay and denture use.
This study identifies genetic determinants of antihypertensive treatment failure in over 400,000 patients, revealing that neurotensin-NTSR1 signaling and CYP3A4*22 variants significantly influence the risk of ACE inhibitor-induced cough and dihydropyridine calcium channel blocker intolerance, respectively.
This large-scale human genetic investigation concludes that despite initial signals of common and rare variant associations, ANO6 does not play an important role in Parkinson's disease risk, as common variant signals were driven by linkage disequilibrium with LRRK2 and rare variant enrichment lacked functional specificity.
By integrating XGBoost-based machine learning prioritization with rare variant burden analyses across large cohorts, this study identifies six novel potential risk genes and a specific zinc-finger domain association in Parkinson's disease, demonstrating the efficacy of combining multi-omic prioritization with high-resolution genetic testing to overcome the limitations of traditional GWAS.
This study demonstrates that low-level mosaic pathogenic variants in dominant congenital hyperinsulinism genes can be detected from blood DNA using targeted next-generation sequencing and orthogonal validation, offering a new framework to improve diagnostic yields for organ-specific monogenic disorders.