📄 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

'Truthsets' for clinical validation of large-scale functional assays: Practice recommendations from Cancer Variant Interpretation Group UK (CanVIG-UK)

The CanVIG-UK group established nine guiding principles and seven best-practice recommendations for constructing variant "truthsets" to clinically validate large-scale functional assays, specifically addressing the need for consistent, context-appropriate standards to resolve variants of uncertain significance in cancer susceptibility genes.

Allen, S., Rowlands, C. F., Garrett, A., Kuzbari, Z., Durkie, M., Burghel, G. J., Robinson, R., Callaway, A., Field, J. (…)2026-07-13
📄 genetic and genomic medicine

A Korean pangenome reference of 14 healthy individuals supports structural variant analysis in disease genomes

This study introduces K-PanRef, the first graph-based Korean pangenome reference constructed from 14 healthy individuals, which significantly improves the representation of Korean genetic diversity and enables the discovery of population-specific structural variants associated with early-onset myocardial infarction.

Shin, D.-H., Jeon, J., Joe, S., Jeon, Y., Yang, J. O., Bhak, J., Baek, S. A., Byun, G., Shin, E.-S., Kwon, Y., Choi, H.- (…)2026-07-09
📄 genetic and genomic medicine

Sickle Cell Disease Demographics and Clinical Epidemiology in Gambian Urban and Rural Cohorts Retrospective Analysis

This retrospective analysis of 840 Gambian SCD patients reveals low rates of acute crises and chronic complications despite the absence of hydroxyurea, while confirming that penicillin prophylaxis significantly reduces infection and crisis rates and folic acid supplementation is associated with higher hemoglobin levels.

Dibbasey, M., Esoh, K., Susso, B., Forrest, K., Sonko, B., Makalo, L., Oriero, E., Cheng, N. I., Amenga-Etego, L., Ceram (…)2026-07-07
📄 genetic and genomic medicine

Complex structural variation, phylogeny, and disease associations of the mucin pangenome

By leveraging long-read sequencing to construct a comprehensive pangenome of 14 mucin family members, this study resolves their complex structural variations and population stratification, ultimately identifying a significant association between short MUC1 VNTRs and severe cystic fibrosis.

Plender, E. G., Prodanov, T., Lin, J., Wong, I., Wertz, J., Gordon, W. W., Bamshad, M. J., Munson, K. M., O'Neal, W. K. (…)2026-07-04
📄 genetic and genomic medicine

Genetic Determinants of Pulmonary Artery Size in over 50,000 Subjects with and without COPD

This study identifies 44 independent genetic signals across 39 loci influencing pulmonary artery diameter in over 50,000 individuals, revealing a polygenic architecture that bridges rare-variant pulmonary hypertension biology with common-variant systemic vascular biology through prioritized effector genes involved in vascular remodeling and development.

Foris, V., Kim, K., Tern, C., Qian, Y., Yu, J., Washko, G., Wade, R. C., Wells, J. M., Lin, H., O'Connor, G. T., Smith (…)2026-07-04
📄 genetic and genomic medicine

Atypical energy-related symptoms define biologically distinct subtypes of major depressive disorder

This study demonstrates that major depressive disorder comprises biologically distinct subtypes defined by the directionality of neurovegetative symptoms, revealing that the "atypical" subtype (characterized by hypersomnia and weight gain) is genetically differentiated from the "typical" subtype by stronger heritability and specific associations with metabolic traits.

Harder, A., Wang, R., Bergstedt, J., Huider, F., Kurvits, S., Thorp, J., Gong, T., Assary, E., Thijssen, A. B., Merola (…)2026-07-04
📄 genetic and genomic medicine

PD-L1-linked spatial decoupling of tumour-immune interactions in EBV-positive DLBCL

This study reveals that PD-L1 genomic gains in EBV-positive DLBCL drive a spatial immune evasion architecture where T cells accumulate near tumor cells but are functionally excluded and suppressed by cancer-associated fibroblasts and metabolic constraints, preventing effective anti-tumor immunity.

Kunstner, A., Kuemmel, M., Faehnrich, A., Derer, S., Raschdorf, A., Witte, H. M., Maluje, Y., Faerber, B., Roesner, T. (…)2026-07-04
📄 genetic and genomic medicine

Ambient AI Documentation in Clinical Genetics: Perspectives on Implementation and Impact on Burnout

This mixed-methods study demonstrates that ambient AI adoption significantly reduces burnout among genetic counselors by alleviating documentation burdens, while also highlighting critical implementation challenges and ethical considerations necessary for its responsible integration into clinical genomic medicine.

Narain, A., Misurac, J., Van Tiem, J., LaSpisa, C., Campbell, C. A.2026-07-02
📄 genetic and genomic medicine

Shared trans-ancestry architecture of HLA-mediated disease risk in the All of Us Research Program

By analyzing high-resolution HLA variation across 390,823 diverse participants in the All of Us Research Program, this study demonstrates that while many HLA-disease associations appear ancestry-specific due to differences in allele frequency and statistical power, the underlying biological architecture and effect directions are largely shared across genetic ancestries.

Ahn, K., House, J. S., Burkholder, A., Tran, T. C., Breeyear, J. H., Justice, C. M., Durney, J., Jones, A. M., Reyes, P. (…)2026-06-30
📄 genetic and genomic medicine

scEPS integrates genetic and single-cell disease atlas data to provide granular mechanistic insights into complex human diseases

The paper introduces scEPS, a novel method that integrates GWAS and single-cell atlas data to identify disease-associated cell neighborhoods by testing if prioritized genes explain more disease variance than controls, thereby revealing distinct biological mechanisms underlying both symptomatic and preclinical disease states across neurological and respiratory disorders.

Zou, L., Whitley, O., Tseng, H.-W., Simopoulos, C., Chang, D., Zhang, R., Stockwell, A., Gong, W., Fletez-Brant, K., Luc (…)2026-06-30