180 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 a comprehensive single-cell map of chromatin accessibility across 3.5 million human immune cells from over 1,000 donors, revealing that integrating cell type-specific caQTLs with multi-omics data significantly enhances the identification of disease-associated regulatory mechanisms and gene networks compared to traditional approaches.
This study presents a computational framework integrating machine learning, protein-protein interaction network analysis, and transcriptomic validation to identify six promising protein biomarkers (OSM, IL6R, LMNB1, HIF1A, NPM1, and CSF1) for the early diagnosis, prognosis, and therapeutic discovery of CLN3 disease.
This study leverages a large, multi-ancestry cohort of US Veterans from the Million Veterans Program in a meta-analysis with existing data to identify 26 novel genome-wide significant loci associated with Alzheimer's disease and dementia, thereby expanding genetic discovery beyond the APOE region and enhancing representation of underrepresented ancestry groups.
This study identifies novel genetic loci associated with hypertrophic cardiomyopathy (HCM) and demonstrates that a newly developed polygenic risk score effectively predicts HCM diagnosis, imaging phenotypes, and adverse clinical outcomes, particularly in sarcomere-negative cases.
This study analyzes 307 age-related genes to reveal that, with the exception of tuberculosis and COVID-19, these genetic factors significantly influence the leading global causes of death through a core set of 15 pleiotropic hub genes involved in critical biological pathways such as nitric oxide regulation and PI3K signaling.
By mapping cis-eQTLs across 2.2 million single cells from blood and intestinal biopsies, this study demonstrates that cell-type-resolved genetic regulatory variation provides a more precise mechanistic link to inflammatory bowel disease risk than tissue-level analysis, identifying specific effector genes and cell types involved in immune dysfunction and barrier breakdown.
This study demonstrates that a gene-agnostic method quantifying genetic similarity among 178 diseases can successfully predict novel therapeutic uses and adverse effects for 1,711 drugs, offering a new pathway for drug discovery that bypasses the need for identifying specific causal genes or targets.
This largest multi-ancestry breast cancer study reveals that the disease shares a largely common polygenic architecture and convergent cellular signatures across diverse ancestral groups, despite variations in specific genetic correlations and effect sizes.
Using electron microscopy to analyze human biofluids, this study demonstrates that cell-free mitochondrial DNA is often associated with double-membrane, mitochondria-like particles rather than existing as naked DNA, suggesting a potential role in intercellular mitochondrial transfer or signaling.
This study evaluates the transferability of 35 known idiopathic pulmonary fibrosis genetic risk variants in non-European populations, finding that while most show limited cross-ancestry consistency, the MUC5B variant remains a dominant signal, underscoring the need for larger, diverse studies to improve genetic discovery and translation.