📄 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

Cross-omic dissection reveals locus-specific heterogeneity and antagonistic pleiotropy between Alzheimer's disease and type 2 diabetes

This study employs an integrative cross-omic framework to demonstrate that the genetic relationship between Alzheimer's disease and type 2 diabetes is characterized not by a simple shared-risk model, but by locus-specific heterogeneity and antagonistic pleiotropy, where shared genetic signals often exert opposing effects on the two diseases.

Adewuyi, E. O., Auta, A., Okoh, O. S., Selmer, K., Gervin, K., Nyholt, D. R., Pereira, G.2026-03-25
📄 genetic and genomic medicine

CanVar-UK: an online data platform supporting collaborative diagnostic interpretation of germline variants in cancer susceptibility genes

CanVar-UK is a freely accessible online platform that supports the collaborative interpretation of germline variants in cancer susceptibility genes by aggregating diverse variant-level data, linking to clinical databases, and facilitating diagnostic discussions among a growing international community of users.

Rowlands, C. F., Choi, S., Allen, S., Kuzbari, Z., Cubuk, C., Sultana, R., Torr, B., Durkie, M., Burghel, G. J., Robinso (…)2026-03-25
📄 genetic and genomic medicine

Integrating 730,947 exome sequences with clinical literature improves gene discovery

The paper introduces gnomAD v4, a massive database of 807,162 individuals, alongside refined loss-of-function annotation and a novel Bayesian framework integrating clinical literature to significantly enhance gene discovery and rare disease diagnosis.

Guez, J., Goodrich, J. K., Moldovan, M. A., Chao, K. R., Kar, P., Panchal, R., Wilson, M. W., Laricchia, K. M., Rohlicek (…)2026-03-25
📄 genetic and genomic medicine

Preferences and willingness-to-pay for expanded carrier screening programmes in the general population: An integrative systematic review and meta-analysis

This integrative systematic review and meta-analysis synthesizes data from 31 studies to characterize the general population's preferences for expanded carrier screening program attributes and estimates a median willingness-to-pay of $107, despite noting a high risk of bias in most included studies.

Yeo Juann, M., Bylstra, Y., Graves, N., Goh, J., Choi, C., Chan, S., Jamuar, S. S., Blythe, R.2026-03-25
📄 genetic and genomic medicine

Prenatal diagnosis of sickle cell disease by amniocentesis using FTA technology in a context of precariousness in sub-Saharan Africa: Challenges and perspectives

This study demonstrates that FTA Elute technology enables reliable, rapid, and cost-effective prenatal diagnosis of sickle cell disease via amniocentesis in resource-limited settings like Kinshasa, while also characterizing the socioeconomic and genetic profiles of the couples seeking these services.

KAMUANYA, N. C., LOKOMBA, V. B., MIKOBI, E. K. B., MIKOBI, H. T. M., LUKUSA, P. T., Mikobi, T. M.2026-03-24
📄 genetic and genomic medicine

An in silico framework for evaluating PRS-guided prognostic enrichment in clinical trial design

This study presents an in silico framework demonstrating that integrating polygenic risk scores into clinical trial designs to enrich for high-risk participants significantly improves statistical power, reduces required sample sizes, and accelerates event accrual across various disease contexts, though optimal enrichment thresholds must be balanced against population availability.

Cai, R., Gillard, J., Yang, S., Gasparyan, S. B., Lu, Y., Tian, L., Vedin, O., Ashley, E. A., Rivas, M. A., O'Sullivan (…)2026-03-24
📄 genetic and genomic medicine

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library

This study demonstrates that blood-based RNA sequencing of 5,412 individuals with rare diseases in the National Genomic Research Library successfully identifies clinically relevant diagnostic candidates by detecting expression and splicing outliers across a diverse range of disorders.

Lord, J., Pagnamenta, A. T., Vestito, L., Walker, S., Jaramillo Oquendo, C., McGuigan, A. E., Ho, A., Odhams, C., Jacobs (…)2026-03-23
📄 genetic and genomic medicine

A pilot genome-wide association study of ischemic heart disease with co-occurring arterial hypertension in a Kazakh cohort

This pilot genome-wide association study in a Kazakh cohort identifies two genome-wide significant loci (UGT1A and ACTR3C) and prioritizes the CSMD1 gene as candidates for ischemic heart disease with co-occurring arterial hypertension, highlighting the need for replication in larger Central Asian populations.

Skvortsova, L., Yergali, K., Zhaxylykova, A., Begmanova, M., Mansharipova, A.2026-03-23