📄 Category

genetic and genomic medicine

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.

📄 genetic and genomic medicine

Integrating enriched case data from national laboratory testing with population-based case-control analyses: a novel statistical likelihood-ratio methodology for PS4 applied to 325,345 breast cancer cases and 671,006 controls

This study introduces a novel statistical likelihood-ratio methodology (PS4-LR-Calculator) that successfully integrates large-scale unselected case-control data with nationally collected, enriched laboratory datasets to significantly enhance the power and precision of classifying breast cancer susceptibility gene variants.

Allen, S., Rowlands, C. F., Garrett, A., Couch, F., Richardson, M. E., Pesaran, T., Pethick, J., Lavelle, K., McRonald (…)2026-05-17
📄 genetic and genomic medicine

A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery

By analyzing homozygous deletions across 125,730 individuals in the UK's National Genomic Research Library, this study establishes a comprehensive genome-wide map that enhances rare disease diagnosis, uncovers the significance of non-coding promoter deletions, and identifies 43 candidate novel disease-associated genes.

McGuigan, A., Pagnamenta, A. T., Covill, L. E., Sampson, J., Camps, C., Chen, Y., Moitra, T., Chundru, V. K., O'Heir, E. (…)2026-05-15
📄 genetic and genomic medicine

Advancing precision medicine in the Cardiac Intensive Care Unit using universal whole-genome sequencing

A retrospective review of Primary Children's Hospital's universal whole-genome sequencing protocol for neonates with congenital heart defects revealed that 19.4% of patients had clinically relevant genetic findings, with 10.6% receiving a causative diagnosis that often occurred before the emergence of extracardiac features, thereby enabling timely medical management and informed family decision-making.

Kierulf, G., Emmerson, M., Krautscheid, P., Bleyl, S., Tristani-Firouzi, M., Sawyer, B.2026-05-14
📄 genetic and genomic medicine

Genetic Profiling of Autoimmune Diseases and Exploring Clusters Through Polygenic Risk Score Analysis Using Cohort Data from the UK Biobank

This study leverages UK Biobank and TriNetX cohort data to characterize the genetic overlap, shared biological pathways, and comorbidity patterns across autoimmune diseases through polygenic risk score analysis and pathway mapping, revealing both common and distinct genetic architectures that support the concept of poly-autoimmunity.

Saurabh, R., Wohlers, I., Moeller, M., Busch, H.2026-05-13
📄 genetic and genomic medicine

Systematic common and rare variant association testing in 392,030 whole genomes in All of Us

This study presents a comprehensive analysis of 392,030 whole genomes from the All of Us Research Program, utilizing a unified "All by All" framework to identify nearly 50,000 genetic associations across thousands of traits and, through meta-analysis with the UK Biobank, uncover novel gene-phenotype links while providing public tools for global research.

Lu, W., Carroll, R. J., Solomonson, M., Guez, J., He, M. K., Marten, D. J., Martinez-Carrosco, A., Wang, Y., Dowd, C. S. (…)2026-05-12
📄 genetic and genomic medicine

Huntingtin CAG repeat is a continuous modifier of brain structure and health vulnerability

This study demonstrates that the Huntingtin CAG repeat length acts as a continuous quantitative modifier of brain structure and neuropsychiatric vulnerability across the general population, challenging the traditional view of it as a purely categorical determinant of Huntington's disease.

Cullen, H., Clarkson, C., Nascimento, H., Zanovello, M., Long, J., Caulfield, M., Simpson, M., Tabrizi, S., Tucci, A.2026-05-12
📄 genetic and genomic medicine

Genetic regulation of cell type-specific chromatin accessibility shapes immune function and disease risk

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.

Xue, A., Fan, J., Dong, O. A., Huang, H. L., Chen, L., Allen, P. C., Spenceley, E., Sagi-Zsigmond, E., Bowen, B., Cuomo (…)2026-05-09
📄 genetic and genomic medicine

Toward Early Diagnosis and Therapeutic Discovery in CLN3 Disease: A Computational Biomarker Discovery Framework

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.

Sun, S., Dang Do, A. N., Thurm, A., Soldatos, A., Zhu, Q.2026-05-07
📄 genetic and genomic medicine

A Genome-wide Association Study of Alzheimer's Disease and Dementia in a Large Multi-ancestry Military Cohort Identifies Many New Dementia-Associated Loci

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.

Sherva, R., Bayly, H., Zhang, R., Harrington, K., Mez, J., Miller, M. W., Tsuang, D., Wolf, E., Zeng, Q., Le Guen, Y., T (…)2026-05-07