📄 Category

genetic and genomic medicine

208 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

Classification of ACE variants related to Alzheimer's disease (AD): the ACE mutations -- AD browser

This study introduces the publicly accessible "ACE mutations–AD browser," a comprehensive database classifying 1,682 ACE variants and estimating that approximately 1 in 25 individuals carries damaging mutations linked to reduced blood ACE levels, suggesting ACE deficiency may be a significant, underrecognized contributor to late-onset Alzheimer's disease susceptibility.

Buianova, A. A., Adzhubei, I. A., Buianov, P. A., Kryukova, O. V., Kost, O. A., Kuznetsov, M. I., Dudek, S. M., Rebrikov (…)2026-08-11
📄 genetic and genomic medicine

A unified framework for local-ancestry-aware genetic association analysis across biobanks

The paper introduces FELIX, a scalable framework that enables local-ancestry-aware genetic association analysis across diverse biobank populations without requiring discrete ancestry assignment, thereby retaining excluded admixed participants and significantly increasing the discovery of genetic loci and predictive accuracy compared to conventional methods.

Hu, L., Tan, T., Yuan, K., Wang, Y., Gorissen, B. L., Lin, Y.-S., Kore, P., Lu, W., Mandla, R., Shi, Z., Hou, K., Karcze (…)2026-08-11
📄 genetic and genomic medicine

Reclassification of Genetic Variants in Patients with Hypertrophic Cardiomyopathy from the Sarcomeric Human Cardiomyopathy Registry (SHaRe)

This study of the Sarcomeric Human Cardiomyopathy Registry (SHaRe) demonstrates that periodic reevaluation of genetic variants in hypertrophic cardiomyopathy patients leads to clinically meaningful reclassifications in 10% of cases, revealing that most variants of uncertain significance are unlikely to be causal and highlighting the necessity of ongoing curation for accurate clinical interpretation.

Hespe, S., Powell, G., Catto, L., Stewart, N., Baker, A., Krishnan, N., Mitchell, L. A., Henden, N., Richardson, E., But (…)2026-08-10
📄 genetic and genomic medicine

Analysis of spliceosome-related coding and noncoding genes and pseudogenes reveals novel candidates

This study identifies novel candidate genes and variants for spliceosomopathies by analyzing rare variants in protein-coding genes, snRNAs, and prioritized snRNA pseudogenes within a large rare disease cohort, thereby expanding the known genetic etiology of splicing-related disorders.

Messaoud, O., DiTroia, S., Tarawneh, R., Marten, D., O'Heir, E., O'Leary, M., Pais, L., Ganesh, V., Singer-Berk, M., Bro (…)2026-08-10
📄 genetic and genomic medicine

Multi-ancestry admixture mapping reveals ancestry-associated disease loci in the UK Biobank

This study leverages multi-ancestry admixture mapping in the UK Biobank to identify novel ancestry-associated disease loci and refine causal variants, demonstrating that distinct genetic pathways can underlie the same clinical phenotype across different ancestral backgrounds.

smeriglio, R., Moreno-Grau, S., Mas Montserrat, D., Venkataraman, G., Bonet, D., Fuses, C., Rivas, M. A., Savino, A., Di (…)2026-08-10
📄 genetic and genomic medicine

Genetic characterization of Parkinsons Disease in a Chilean cohort

This study characterizes the genetic landscape of Parkinson's disease in a Chilean cohort of 461 patients, revealing that 12.6% carry pathogenic variants—predominantly the p.G2019S *LRRK2* mutation, which shows the highest frequency reported in South America and is enriched in individuals with Ashkenazi Jewish ancestry.

Saffie-Awad, P., Wild Crea, P., Grant, S. M., Lee, P. S., Peixoto Leal, T., Teixeira-dos-Santos, D., Akcimen, F., Khani (…)2026-08-06
📄 genetic and genomic medicine

The Neuropsychiatry of 22q11.2 Deletion Syndrome: An Electronic Health Records Study.

This study utilizes the largest electronic health records dataset to date to characterize the neuropsychiatric phenotype of 22q11.2 deletion syndrome, revealing a profound burden of neurodevelopmental, psychiatric, and neurological disorders—including significantly elevated risks for schizophrenia, epilepsy, and early-onset Parkinson's disease—compared to matched controls.

Watson, C. J., Rogdaki, M., Lynch-Kelly, K., Hafeez, D., Eilon, T., Linden, D., Walters, J., Vassos, E., Edwards, M., Po (…)2026-08-04
📄 genetic and genomic medicine

GLP1R Variants and Polygenic Risk Underlie Heterogeneous Response to GLP-1 Receptor Agonists in Type 2 Diabetes

This study demonstrates that heterogeneous glycemic responses to GLP-1 receptor agonists in adults with type 2 diabetes are significantly driven by a combination of baseline clinical characteristics and genetic factors, specifically higher polygenic risk scores and the presence of common GLP1R variants, which are more prevalent in poor responders.

Tirumalasetty, M. B., Chun Wang, V. H., Mohiuddin, M. S., Choubey, M., Barua, R., Zhang, D. S., Miao, Q.2026-08-02
📄 genetic and genomic medicine

SVkhor: a unified framework for structural variant integration across long-read, short-read, and optical genome mapping data

SVkhor is a unified software framework that integrates structural variant callsets from short-read, long-read, and optical genome mapping data by normalizing and merging outputs across different callers and technologies to produce compact, interpretable catalogs for benchmarking and clinical analysis.

Sharif Rahmani, E., Thomas, Q., Tisserant, E., Vautrot, V., Auclair, A., Hounnondaho, F.-Z., Castillon, E., Faivre, L. (…)2026-08-02