📄 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

ICONIC: An R Package for Integrating Instrumental Variable- and Negative-Control-Informed Causal Discovery and Diagnostics in Multiomic Studies

The paper introduces ICONIC, an R package that unifies genetic instrumental variables and negative-control calibration within a proximal causal inference framework to address unmeasured confounding in multi-omic studies, offering diverse estimators, robust diagnostics, and real-world applications in placental and tumor biology.

Bresnahan, S. T., Xiong, C., Head, T., Chang, Y.-H., Bhattacharya, A., Huang, J. Y.2026-08-31
📄 genetic and genomic medicine

TRACE: A FINE-TUNED BIOMEDICAL LANGUAGE MODEL FOR DIRECTIONALLY INFORMED DRUG REPURPOSING FROM TRANSCRIPTOME-WIDE ASSOCIATION STUDIES

The paper introduces TRACE, a scalable, AI-driven pipeline that leverages a fine-tuned biomedical language model to automate the curation of literature and rank FDA-approved drug candidates for repurposing by aligning drug-gene effect directions with transcriptome-wide association study (TWAS) signals, thereby bridging genetic discovery and therapeutic hypothesis generation.

Otieno, C. O., Seagle, H. M., Akerele, A. T., Jaworski, J., Guare, L., Setia-Verma, S., Velez Edwards, D. R., Edwards, T (…)2026-08-28
📄 genetic and genomic medicine

Cross-trait and multi-polytranscriptomic score analysis of Parkinson's disease identifies novel associations and improves prediction

This study presents the first large-scale cross-trait and multi-polytranscriptomic score analysis of Parkinson's disease, demonstrating that integrating transcriptomic data with machine learning models identifies novel trait associations and significantly improves disease prediction accuracy beyond traditional polygenic scores.

Gilchrist, L., Pain, O., Calhas, S., Genetics Program, G. P., Noyce, A. J., Atterling Brolin, K., Perinan, M. T., Proits (…)2026-08-26
📄 genetic and genomic medicine

Pediatric pharmacogenomics from whole-exome sequencing: developmentally appropriate interpretation in 1,159 Russian children and newborns

This study analyzes pharmacogenomic data from 1,159 Russian children and newborns to demonstrate that current adult-based interpretation algorithms often fail to account for developmental changes in drug metabolism, leading to the proposal of a new age-oriented pediatric PGx reporting model that integrates ontogenetic adjustments and evidence stratification.

Buianova, A. A., Cheranev, V. V., Kuznetsov, M. I., Repinskaia, Z. A., Belova, V. A.2026-08-25
📄 genetic and genomic medicine

Association of genetic variants from the Wnt signaling pathway with cardiovascular disease in the Saudi Arabian population

This case-control study in a Saudi Arabian population reveals that specific genetic variants within the Wnt signaling pathway genes (APC, AXIN2, DKK4, SFRP3, and LRP6) are associated with cardiovascular disease risk in an age- and gender-dependent manner, while variants in CTNNB1, TCF7L2, and DKK3 showed no significant association.

Chinmayi Ramachandra Kaundinya, Narasimha Reddy Parine, Zahid Khan, Maha Arafah, Jilani Purusottapatnam Shaik, Mohammad (…)2026-08-24
📄 genetic and genomic medicine

Conditional polygenic enrichment distinguishes causal from tagging disease-critical cell populations in single-cell RNA-seq

The paper introduces scDRS-FM, a novel method that integrates single-cell RNA-seq and GWAS data to distinguish causal disease-critical cell populations from correlated tagging populations by modeling conditional polygenic enrichment, thereby enabling more accurate fine-mapping of disease-relevant cellular contexts across diverse traits and cell types.

Turcan, A., Hou, K., Lin, K. Z., Pfenning, A., Sakaue, S., Zhang, M. J.2026-08-23
📄 genetic and genomic medicine

Additive Multilocus Burden and Epistatic Interactions Improves Genetic Risk Predictions for Complex Diseases

This study introduces an extended polygenic risk score (ePRS) framework that incorporates non-additive multilocus interactions and gene-environment effects to significantly improve genetic risk prediction for complex diseases like type 2 diabetes and celiac disease by capturing high-risk individuals missed by traditional additive models.

Multerer, K., Atkinson, P., Woods, L., Tanigawa, Y., Kellis, M., Munkacsi, A.2026-08-14
📄 genetic and genomic medicine

Copy number variant association analysis in 94,730 Chinese adults reveals loci influencing anthropometric and cardiometabolic traits

A genome-wide association study of 94,730 Chinese adults from the China Kadoorie Biobank identified 19 independent copy number variant associations across 15 loci influencing anthropometric and cardiometabolic traits, including novel findings and replicated dosage-sensitive regions, thereby expanding the genetic understanding of these traits in East Asian populations.

Howard, I., Millwood, I., Morris, S., Lin, K., Avery, D., Yu, C., Lv, J., Sun, D., Pei, P., Li, L., Chen, J., Chen, Z. (…)2026-08-13
📄 genetic and genomic medicine

Genotype-predicted drug response phenotypes and their co-occurrence with dispensed medicines among 738,531 participants in the UK Our Future Health study

In a cross-sectional analysis of 738,531 participants from the UK Our Future Health study, researchers found that while every individual carries at least one actionable pharmacogenomic phenotype, 36.8% have been dispensed a matching medicine, with co-occurrence rates increasing with age and concentrating in widely prescribed drug classes like proton-pump inhibitors, antidepressants, and statins, thereby highlighting significant opportunities for optimizing treatment through pre-emptive pharmacogenomic testing.

Rentsch, C. T., Bhaskaran, K., Pavicic, M., Warren, H. R., Matthewman, J., Barry, E., Rafi, I., Hayward, J., Gerada, C. (…)2026-08-12
📄 genetic and genomic medicine

Uveal and cutaneous melanoma share a common mutation with distinct prognostic implications: A bioinformatic study

This bioinformatic study identifies that while uveal and cutaneous melanomas share only two common genetic variations (rs12203592 in IRF4 and rs12913832 in HERC2), these mutations exhibit distinct prognostic implications, with IRF4 serving as a key prognostic indicator for both cancers and HERC2 acting as a poor prognostic factor specifically in uveal melanoma.

Razmjooei, F., Ashayeri, H., Jafarzadeh, Z., Dabbaghabdollahi, P., Jafarizadeh, A.2026-08-11