📄 Category

genetic and genomic medicine

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.

📄 genetic and genomic medicine

Imputation of structural variants using a multi-ancestry long-read sequencing panel enables identification of disease associations

By constructing a multi-ancestry long-read sequencing panel to impute structural variants in 500,000 UK Biobank participants, this study enables large-scale genome-wide association analyses that uncover thousands of significant disease links and demonstrate the superior ability of structural variants to prioritize causal genes compared to traditional short-variant GWAS.

Noyvert, B., Erzurumluoglu, A. M., Drichel, D., Omland, S., Andlauer, T. F. M., Mueller, S., Sennels, L., Becker, C., Ka (…)2026-05-19
📄 genetic and genomic medicine

Rare bi-allelic loss-of-function variants in the LRRK2 kinase cause interstitial lung disease

This study identifies that rare bi-allelic loss-of-function variants in the LRRK2 gene cause a recessive Mendelian form of interstitial lung disease characterized by lung fibrosis and alveolar type 2 cell dysfunction, distinguishing it from the Parkinson's disease associated with heterozygous activating variants.

Sammler, E. M., Kalacyi, T., Wikenheiser-Brokamp, K. A., Gomes, S., Rawat, E. S., Peljto, A., Cheung, A., Citak, S., Vay (…)2026-05-19
📄 genetic and genomic medicine

Single-cell genetics identifies cell-type-specific effector genes across complex traits and diseases

This study leverages single-cell eQTL mapping across 28 peripheral immune cell types to construct a comprehensive catalogue of cell-type-specific effector genes for 69 diseases and 31 biomarker traits, revealing distinct immune contributions to complex conditions and identifying targets with a higher likelihood of regulatory approval.

Henry, A., Senabouth, A., Tyebally, R., Bowen, B., Allen, P. C., Spenceley, E., Sagi-Zsigmond, E., McCloy, R. A., Cuomo (…)2026-05-18
📄 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