📄 Category

genetic and genomic medicine

189 papers

Pathogenicity Reassessment and Novel Variant Discovery in Inherited Retinal Disease through Population-Scale Genomics in the United Arab Emirates

By analyzing whole-genome sequencing data from over 500,000 Emirati individuals, this study demonstrates that population-scale calibration is essential for accurately assessing the pathogenicity of inherited retinal disease variants, revealing that many established pathogenic classifications lack real-world penetrance while numerous unclassified and novel variants represent significant, population-specific risks.

Alkaf, B., Mohammed Abdulrahman, W., Al Marzooqi, S. + 43 more2026-04-14📄 genetic and genomic medicine

Epigenetic Signatures in Monozygotic and Dizygotic Twins Discordant for Orofacial Clefts

This epigenome-wide association study of discordant monozygotic and dizygotic twin pairs identifies differentially methylated regions, particularly at the CYP26A1 locus, implicating retinoic acid signaling and chromatin regulation in the etiology of nonsyndromic orofacial clefts while demonstrating the utility of twin designs in distinguishing environmental from genetic epigenetic contributions.

Petrin, A. L., Keen, H. L., Dunlay, L. + 7 more2026-04-08📄 genetic and genomic medicine

Combined analysis of chromatin accessibility, promoter interactions and whole genome sequencing solved the missing heritability in gastric cancer

By integrating whole-genome sequencing with stomach-specific chromatin accessibility and promoter interaction analyses, this study identified novel oligogenic mechanisms involving deletions of regulatory elements in the CDH1 and MLH1 loci, as well as immune and mucin-related pathways, that explain the missing heritability in 47% of hereditary diffuse gastric cancer-like families.

Sao Jose, C., Ferreira, M., Cordova, L. + 13 more2026-04-07📄 genetic and genomic medicine

Leveraging Open-Source Large Language Models to Identify Undiagnosed Patients with Rare Genetic Aortopathies

This study demonstrates that an open-source Large Language Model pipeline, enhanced with retrieval-augmented generation on curated genetic corpora, can effectively analyze unstructured clinical notes to identify undiagnosed patients with rare genetic aortopathies who would benefit from genetic testing, achieving high accuracy and offering a promising decision-support tool for earlier disease recognition.

Singhal, P., Li, Z., Yang, Z. + 10 more2026-04-07📄 genetic and genomic medicine

Considering social risk alongside genetic risk for bipolar disorder in the All of Us Research Program

In a large-scale study of the All of Us Research Program, researchers found that social risk factors, such as perceived stress and adverse childhood experiences, exhibit stronger associations with bipolar disorder than genetic risk scores alone, demonstrating that integrating social and environmental data with genetics is essential for more accurate and equitable psychiatric risk prediction.

Sharp, R. R., Hysong, M., Mealer, R. G. + 3 more2026-04-07📄 genetic and genomic medicine

Multiplex Portuguese Families as a Lens into rare mutations and the Shared Genetic Architecture of Schizophrenia, Mood Disorders, and Autism Spectrum Disorders

By analyzing 173 multiplex Portuguese families, this study reveals the shared genetic architecture of schizophrenia, mood disorders, and autism, identifying a rare CHD2 loss-of-function mutation that demonstrates how single neurodevelopmental gene disruptions can cross diagnostic boundaries to cause diverse serious mental illnesses.

Pato, C. N., Pato, M. T., Mulle, J. + 16 more2026-04-07📄 genetic and genomic medicine

Ancestry-stratified variant classification in monogenic diabetes genes: annotation coverage and differential curation burden

This study reveals that while non-European patients with monogenic diabetes face a significant 70% annotation gap in ClinVar and gnomAD, the primary equity issue is not a simple excess of variants of uncertain significance but rather a distinct curation deficit and reclassification lag compared to European populations, highlighting the urgent need for ancestry-stratified evaluation of variant curation standards.

Dario, P.2026-04-07📄 genetic and genomic medicine

Religious beliefs and practices, political orientation, and distrust in healthcare predict attitudes toward mRNA vaccines in the United States

A secondary analysis of a large U.S. survey reveals that attitudes toward mRNA vaccines are significantly shaped by religious affiliation, political orientation, and healthcare distrust, with Evangelical Protestants and those holding conservative or fundamentalist views showing greater skepticism compared to atheists and liberals.

Solomon, E. D., Chin, E. G., Baldwin, K. + 2 more2026-04-07📄 genetic and genomic medicine

Pitfalls in estimating and interpreting the contribution of ultra-rare genetic variants to the heritability of complex traits

This study identifies and corrects for key biases—such as population stratification, non-additive genetic effects, and mis-calibrated standard errors—in estimating the heritability of complex traits from ultra-rare variants, demonstrating significant contributions for specific phenotypes while highlighting the need for larger samples and improved methods for ordinal and binary traits.

Wang, H., Wainschtein, P., Sidorenko, J. + 9 more2026-04-07📄 genetic and genomic medicine

A non-coding variant at 2p24.2 confers susceptibility to non-syndromic cleft lip and palate through LLPS-dependent regulation of MYCN

This study identifies the non-coding variant rs4263114 at the 2p24.2 locus as the causal factor for non-syndromic cleft lip and palate, demonstrating that it increases disease susceptibility by disrupting FOXP2-mediated liquid-liquid phase separation, which impairs enhancer-promoter looping and suppresses MYCN expression in cranial neural crest cells.

Wu, Z., Yuan, Z., Yang, R. + 5 more2026-04-07📄 genetic and genomic medicine

Implementing Reproductive Carrier Screening to Include Diverse Asian Populations: Insights from Singapore

Singapore's nationwide reproductive carrier screening program, utilizing a customized 112-gene panel tailored to Asian diversity, has successfully engaged thousands of couples and stakeholders since its 2024 pilot launch, demonstrating high community interest and religious support while highlighting the need for enhanced healthcare professional training and equitable outreach to address sociodemographic disparities in awareness and uptake.

Bylstra, Y., Yeo Juann, M., Teo, J. X. + 25 more2026-04-07📄 genetic and genomic medicine

Shared Genetic Architecture Between Kidney Function and Alzheimer Disease Across Ancestries

This multi-ancestry study reveals that while kidney function and Alzheimer's disease lack a genome-wide genetic correlation, they share specific pleiotropic loci—most notably APOE across ancestries and others like PICALM and EFTUD1 in Europeans—where distinct causal variants and mixed horizontal and vertical pleiotropy explain the complex kidney-brain genetic axis.

Yang, D., Yang, Y., Ray, N. R. + 11 more2026-04-06📄 genetic and genomic medicine

PAVS: A Standardized Database of Phenotype-Associated Variants from Saudi Arabian Rare Disease Patients

The paper introduces PAVS, a standardized, publicly accessible database integrating thousands of Saudi Arabian and global clinical cases with phenotype-genotype data to address the lack of population-specific resources and demonstrate high utility in prioritizing disease-causing genes for under-represented populations.

Abdelhakim, M., Althagafi, A., SCHOFIELD, P. + 1 more2026-04-06📄 genetic and genomic medicine

Mutation-specific impairment of TET2 and DNMT3A enzymatic activity predicts clonal hematopoiesis disease risk

By analyzing over one million individuals, this study demonstrates that the disease risk associated with *TET2* and *DNMT3A* clonal hematopoiesis is driven by specific enzymatically disruptive mutations and can be accurately predicted using novel methylation-based activity scores that quantify functional impairment and outperform existing clinical risk models.

Pershad, Y., Zhao, K., Van Amburg, J. C. + 9 more2026-04-05📄 genetic and genomic medicine

Comparing Cardiac Genetic Testing Pathways: Impacts on Access, Informed Choice, and Decisional Satisfaction

While integrating genetic testing into cardiology clinics significantly improved patient access and reduced wait times compared to traditional genetics referrals, it resulted in lower rates of informed decision-making, underscoring the critical need for structured education within mainstreamed pathways.

Christian, S., Belcher, T. C., Benoit, M. + 14 more2026-04-05📄 genetic and genomic medicine

Berrylyzer-an Efficient, Traceable, and Lightweight Intelligent Agentic System for Prenatal Genetic Diagnosis

Berrylyzer is an efficient, traceable, and lightweight AI-driven system that outperforms existing state-of-the-art tools in prioritizing causative variants for prenatal genetic diagnosis by effectively integrating both structured and free-text clinical data to achieve high accuracy and robustness across diverse diagnostic contexts.

Meng, M., Liu, L., Du, Q. + 12 more2026-04-04📄 genetic and genomic medicine