📄 Category

genetic and genomic medicine

181 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-ancestry performance of Parkinson's disease polygenic risk scores in admixed Latin American populations

This study demonstrates that in admixed Latin American populations, polygenic risk scores for Parkinson's disease derived from large European GWAS currently outperform those from smaller ancestry-matched datasets, though methods incorporating functional annotations like SBayesRC offer the best predictive performance, highlighting the urgent need for larger, diverse genetic studies to ensure equitable clinical translation.

Flores-Ocampo, V., Reyes-Perez, P., Ogonowski, N. S., Sevilla-Parra, G., Diaz-Torres, S., Leal, T. P., Waldo, E., Ruiz-C (…)2026-03-03
📄 genetic and genomic medicine

Adapting Clinical Chemistry Plasma as a Source for Liquid Biopsies

This study demonstrates that residual plasma from routine clinical chemistry heparin separator tubes, when processed promptly and refrigerated, serves as a viable and high-quality source for circulating cell-free DNA biobanking and molecular testing, showing strong concordance with standard specialized collection methods.

Ding, S. C., Yu, J., Liao, T., Ahmann, L., Yao, Y., Ho, C., Wang, L., Pinsky, B. A., Gu, W.2026-02-26
📄 genetic and genomic medicine

Detecting and Adjusting for Hidden Biases due to Phenotype Misclassification in Genome-Wide Association Studies

This paper introduces PheMED, a scalable statistical method that leverages GWAS summary statistics to quantify and adjust for genome-wide effect size dilution caused by phenotype misclassification, thereby improving the accuracy of downstream replication, heritability analyses, and meta-analyses.

Burstein, D., Hoffman, G. E., Gupta, S., De Almeida, S., Mathur, D., Venkatesh, S., Therrien, K., Fanous, A., Bigdeli, T (…)2026-02-24
📄 genetic and genomic medicine

How parents judge newborn screening expansion in the genomic era: a theory-informed survey in France from the SeDeN-p3 study

This French study reveals that while parental support for expanding newborn screening to include genomic technologies is generally high, it is nuanced and primarily driven by perceived health benefits and emotional attitudes, with specific concerns regarding uncertainty and ethical implications requiring culturally adapted communication and clear governance for successful implementation.

LEVEL, C., FAIVRE, L., LEMAITRE, M., SALVI, D., MARCHETTI-WATERNAUX, I., CUDRY, E., SIMON, E., BOURGON, N., BENACHI, A. (…)2026-02-24
📄 genetic and genomic medicine

An Integrated Deep Learning Framework for Small-Sample Biomedical Data Classification: Explainable Graph Neural Networks with Data Augmentation for RNA sequencing Dataset

This study proposes an integrated deep learning framework that combines data augmentation, feature selection, and explainable graph neural networks to achieve high-accuracy, biologically interpretable classification of small-sample RNA-Seq datasets, demonstrating superior performance on chromophobe renal cell carcinoma and other diseases.

Guler, F., Goksuluk, D., Xu, M., Choudhary, G., agraz, m.2026-02-24
📄 genetic and genomic medicine

Cohort Profile: Investigating Antidepressant Response within Generation Scotland

This study describes the recruitment and initial characterization of 1,180 Generation Scotland participants with a history of antidepressant treatment, who completed a detailed questionnaire to establish clinically meaningful phenotypes of treatment response that will be validated against electronic health records and linked with biological samples to investigate the mechanisms underlying variability in antidepressant efficacy.

Calnan, M. L., Edmonson-Stait, A., Milbourn, H., Elsden, E., Henders, A. K., Ball, E. L., Iveson, M. H., AMBER Research (…)2026-02-24
📄 genetic and genomic medicine

Saturation genome editing of BARD1 resolves VUS and provides insight into BRCA1-BARD1 tumor suppression

This study utilizes saturation genome editing to comprehensively map the functional impact of nearly 11,000 BARD1 variants, successfully resolving over 95% of variants of uncertain significance and confirming the gene's critical role in tumor suppression through homology-directed DNA repair.

Woo, I., Casadei, S., Snyder, M. W., Smith, N. T., Best, S., Tejura, M., Gupta, P., McEwen, A. E., Post, M., Hamm, A., D (…)2026-02-23