genetic and genomic medicine papers

Implementation of the genome-informed risk assessment (GIRA) may lead to large disruptions to the health system

This study evaluating the Genome-Informed Risk Assessment (GIRA) in the Penn Medicine Biobank reveals that while the tool effectively identifies a large proportion of high-risk patients across diverse ancestries, its implementation at scale poses significant challenges due to disparities in risk stratification by ancestry and socioeconomic status, as well as a notable gap between its ability to predict prevalent versus incident disease cases.

Lapinska, S., Li, X., Mandla, R. + 7 more2026-02-27📄 genetic and genomic medicine

Familial medullary thyroid carcinoma secondary to an SLC30A9 intragenic deletion and translation reinitiation

This study identifies a novel heterozygous intragenic *SLC30A9* deletion as the causative factor in *RET*-negative familial medullary thyroid carcinoma, demonstrating that the resulting N-terminally truncated proteins, produced via translation reinitiation, drive oncogenesis through increased stability and enhanced cell proliferation.

Iacovazzo, D., Begalli, F., Suleyman, O. + 40 more2026-02-27📄 genetic and genomic medicine

Evidence for sexual antagonism and antagonistic pleiotropy in the maintenance of late onset Alzheimer's disease alleles

This paper proposes that the persistence of late-onset Alzheimer's disease alleles is driven by a combination of sexual antagonism, which increases risk in females while potentially benefiting males, and antagonistic pleiotropy, which links reduced Alzheimer's risk to increased cancer risk in males.

Morrow, E. H., Harper, J. A.2026-02-27📄 genetic and genomic medicine

Misclassification of heritable mortality undermines estimates of intrinsic life span heritability

This paper argues that the claim of a 55% heritability for human lifespan is fundamentally flawed because it incorrectly assumes susceptibility to "extrinsic" causes of death, such as infections and accidents, is non-genetic, thereby introducing selection bias that artificially inflates heritability estimates.

Hamilton, F. W.2026-02-27📄 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. + 6 more2026-02-26📄 genetic and genomic medicine

Decoding Pathogenic and Resilient Gene Regulatory Interactions in Alzheimer's Disease

By constructing the largest cell-type-resolved gene regulatory network atlas of Alzheimer's disease from 1.7 million nuclei, this study identifies a three-state transcriptional framework where BCL6-mediated suppression of NF-κB defines cognitive resilience against equivalent neuropathology, while IRF8/STAT1 erosion and FLI1/IKZF1-driven vascular-immune remodeling characterize disease progression, thereby reframing resilience as an active regulatory state and highlighting BCL6, IRF8, and FLI1 as key therapeutic targets.

Spencer, C., PsychAD Consortium,, N.M., P. + 18 more2026-02-26📄 genetic and genomic medicine

Shared genetic factors between lung function and asthma by age at onset

This study reveals that the shared genetic architecture between asthma and lung function varies by age at onset, with earlier-onset asthma showing stronger genetic correlations and mediated effects on lung function through specific loci on chromosomes 5 and 6 involving genes like SLC22A5 and C5orf56.

Li, Y., Cornejo-Sanchez, D. M., Dong, R. + 4 more2026-02-26📄 genetic and genomic medicine

Evaluating mainstreaming in pediatric immunology: an optimal model of care

This study demonstrates that implementing a mainstream model of care for pediatric inborn errors of immunity significantly improved genomic testing outcomes, including reduced duplicate testing and variants of uncertain significance, increased informed consent documentation, and a higher diagnostic yield.

DeBortoli, E., Clinch, T., Vaz-Goncalves, L. + 10 more2026-02-26📄 genetic and genomic medicine

Triglyceride Polygenic Score Identifies Differential Bleeding and Cardiovascular Risk with Aspirin in Primary Prevention

This study demonstrates that a triglyceride-related polygenic score can stratify older adults in primary prevention, identifying those with high genetic risk who are harmed by aspirin (increased bleeding without cardiovascular benefit) versus those with low genetic risk who are protected from both bleeding and cardiovascular events.

Fransquet, P. D., Yu, C., Tran, C. + 6 more2026-02-25📄 genetic and genomic medicine

Leveraging genome-wide effects on gene expression to identify disease-critical genes with trans-genetic components

This paper introduces EGRET, an ensemble framework that integrates cis- and trans-eQTLs to model genome-wide regulatory effects on gene expression, thereby significantly improving the detection of disease-critical genes and the characterization of gene regulatory networks compared to existing cis-only or state-of-the-art trans-eQTL methods.

Brunton, K., Ragsac, M. F., Amariuta, T.2026-02-25📄 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. + 9 more2026-02-24📄 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. + 12 more2026-02-24📄 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. + 2 more2026-02-24📄 genetic and genomic medicine

Genome-wide association study of extrapulmonary traits in the context of COPD

This genome-wide association study identifies specific genetic variants linked to extrapulmonary traits such as functional capacity, muscle strength, and disease burden in COPD, revealing that these impairments are partly driven by pre-existing genetic predispositions independent of the disease diagnosis.

Marcalo, R., Rodrigues, G., Dias, C. + 20 more2026-02-24📄 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. + 11 more2026-02-24📄 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. + 19 more2026-02-23📄 genetic and genomic medicine

Phenotypic and transcriptomic characterisation of a novel biallelic RNU2-2 developmental and epileptic encephalopathy

This study identifies 14 individuals with severe developmental and epileptic encephalopathy caused by rare biallelic *RNU2-2* variants, characterizing a distinct clinical phenotype and demonstrating that aberrant splicing events are detectable via RNA sequencing in fibroblast but not blood tissues.

Henry, O. J., Pekkola Pacheco, N., Duba, I. + 21 more2026-02-23📄 genetic and genomic medicine

Long-read nanopore sequencing uncovers population-specific structural variation in the Middle East and North Africa

This study presents the first comprehensive catalogue of structural variants in 61 individuals from the Middle East and North Africa (MENA) using ultra-long Oxford Nanopore sequencing, revealing significant population-specific diversity and demonstrating that this resource reduces the clinical interpretation burden for MENA patients by 92%.

AL Yazeedi, T., Tandonnet, S., Hauns, S. + 5 more2026-02-23📄 genetic and genomic medicine

Performance of a Type 1 Diabetes Genetic Risk Score in a Multi-centric Study from India and its Implications in Clinical Practice

This multi-centric study validates that a 67-SNP Type 1 Diabetes Genetic Risk Score performs consistently across diverse Indian populations but requires ancestry-specific threshold optimization and shows variable efficacy based on autoantibody status and age of onset to ensure accurate clinical diagnosis.

Sankareswaran, A., Lavanuru, D., Nalluri, B. T. + 18 more2026-02-23📄 genetic and genomic medicine

RNA sequencing resolves cryptic pathogenic variants in mitochondrial disease

This study demonstrates that integrating RNA sequencing with DNA-based genomic analysis significantly improves the molecular diagnosis of pediatric mitochondrial diseases by revealing cryptic pathogenic variants, such as aberrant splicing and regulatory events, that remain undetected by whole exome or genome sequencing alone.

Liu, Z., Duan, X., Peymani, F. + 19 more2026-02-23📄 genetic and genomic medicine

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