📄 Category

genetic and genomic medicine

147 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

Genome-Wide Variations of End Motif in Cell-Free DNA Fragments Distinguish Immunotherapy Responders from Non-Responders in Head and Neck Cancer: A Multi-Institute Prospective Study

This multi-institute prospective study demonstrates that a novel fragmentomic metric called the regional motif diversity score (rMDS), derived from cell-free DNA end motifs, robustly distinguishes immunotherapy responders from non-responders in head and neck cancer and predicts improved disease-free survival, outperforming established biomarkers like PD-L1 expression and tumor fraction.

Bandaru, R., Fu, H., Zheng, H., Liang, J., Wang, L., Gulati, S., Hinrichs, B. H., Teng, M., Zhang, B., Kocherginsky, M. (…)2026-03-30
📄 genetic and genomic medicine

FRMPD4, a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing loss

This study identifies FRMPD4 as a causal gene for X-linked non-syndromic sensorineural hearing loss, expanding its known phenotypic spectrum beyond intellectual disability and epilepsy through genetic analysis of affected families and functional validation across Drosophila, zebrafish, and mouse models.

Liedtke, D., Rak, K., Schrode, K. M., Hehlert, P., Chamanrou, N., Bengl, D., Katana, R., Heydaran, S., Doll, J., Han, M. (…)2026-03-30
📄 genetic and genomic medicine

Genetic influence of BCAA metabolism on type 2 diabetes and coronary artery disease, independent of traditional risk factors

This study demonstrates through genomic structural equation modeling that genetic factors influencing branched-chain amino acid (BCAA) metabolism independently contribute to the risk of type 2 diabetes and coronary artery disease, distinct from traditional risk factors like obesity and dyslipidemia.

Nakamura, S., Koido, M., He, Y., Takeuchi, Y., Tsuru, H., Sagiya, Y., Nagai, A., Morisaki, T., Matsuda, K., Kamatani, Y.2026-03-30
📄 genetic and genomic medicine

Diagnostic Accuracy of Large Language Models for Rare Diseases: A Systematic Review and Meta-Analysis

This systematic review and meta-analysis of 15 studies reveals that while large language models augmented with external knowledge achieve higher diagnostic accuracy for rare diseases than standalone models, their performance is highly variable and dependent on benchmark disease composition, with all current evidence limited by high risk of bias and a lack of prospective clinical validation.

Nguyen, M.-H., Yang, C.-T., Cassini, T. A., Ma, F., Hamid, R., Bastarache, L., Peterson, J. F., Xu, H., Li, L., Ma, S. (…)2026-03-27
📄 genetic and genomic medicine

Incorporating phenotype heterogeneity in disease GWAS improves power while maintaining specificity

The paper introduces StratGWAS, a scalable framework that improves the power and specificity of genome-wide association studies for heterogeneous diseases by leveraging secondary clinical features to stratify cases and upweight those with higher inferred genetic liability, thereby identifying more significant genetic loci than standard methods.

Hof, J. J. P., Ning, C., Quinn, L., Speed, D.2026-03-27
📄 genetic and genomic medicine

Leveraging human genetic variation to therapeutically target hundreds of genes with dominant & dispensable disease alleles

This paper identifies a novel therapeutic strategy that leverages common heterozygous genetic variants to enable allele-specific, mutation-agnostic silencing of over 500 dominant and dispensable disease alleles across diverse physiological systems, thereby dramatically expanding the pool of treatable patients compared to mutation-specific approaches.

Ramey, G. D., Cowan, Q. T., Saxena, A. G., Macklin, B. L., Watry, H. L., Mei, S., Dierks, P., Judge, L. M., Conklin, B. (…)2026-03-27
📄 genetic and genomic medicine

Lung adenocarcinoma WHO histological classes contain distinct immune cell profiles

This study demonstrates that lung adenocarcinoma histological subtypes defined by WHO classification exhibit distinct immune cell and transcriptomic profiles that correlate with survival and immunotherapy responsiveness, offering a more prognostically valuable framework than mutation analysis alone.

Nastase, A., Olanipekun, M., Starren, E., Willis-Owen, S. A. G., Mandal, A., Domingo-Sabugo, C., Morris-Rosendahl, D., L (…)2026-03-26
📄 genetic and genomic medicine

Spatio-Temporal Landscape of Whole-Genome DNA Methylation Patterns in Ovarian Cancer

This study presents a comprehensive resource of whole-genome DNA methylation patterns in 404 high-grade serous ovarian cancer samples, revealing that the regulatory methylome is established early and remains stable during chemotherapy, with widespread promoter hypermethylation in treatment-resistant ascites cells driving therapy failure and offering detectable epigenetic signatures for liquid biopsy monitoring.

Marchi, G., Lavikka, K., Li, Y., Isoviita, V.-M., Micoli, G., Afenteva, D., Pöllänen, E., Holmström, S., Häkkinen, A (…)2026-03-25
📄 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