Peter D. Stenson

Heath Park
Cardiff, WLS, United Kingdom

Last Updated: 09/26/2026

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Found 54 publications

When splicing is not all or none: GT>GC 5' splice-site variants as a model for intermediate effects and challenges in variant classification.

When splicing is not all or none: GT>GC 5' splice-site variants as a model for intermediate effects and challenges in variant classification.

Journal: HGG advances

Published: November 21, 2025

Genome-wide detection of human 5' UTR variants that impact protein translation.

Genome-wide detection of human 5' UTR variants that impact protein translation.

Journal: American journal of human genetics

Published: August 04, 2025

Expanding the utility of variant effect predictions with phenotype-specific models.

Expanding the utility of variant effect predictions with phenotype-specific models.

Journal: Nature communications

Published: February 19, 2025

AAVC: An automated framework for high-accuracy ACMG-based variant classification.

AAVC: An automated framework for high-accuracy ACMG-based variant classification.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 11, 2025

AAVC: An automated framework for high-accuracy ACMG-based variant classification.

AAVC: An automated framework for high-accuracy ACMG-based variant classification.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 11, 2025

Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data.

Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data.

Journal: American journal of human genetics

Published: August 12, 2024

The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson's disease comorbidity.

The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson's disease comorbidity.

Journal: Genome medicine

Published: January 22, 2024

Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.

Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: November 06, 2023

Phylogenomic analyses provide insights into primate evolution.

Phylogenomic analyses provide insights into primate evolution.

Journal: Science (New York, N.Y.)

Published: June 01, 2023

Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set.

Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set.

Journal: Genome medicine

Published: May 29, 2023

Accurate identification of genes associated with brain disorders by integrating heterogeneous genomic data into a Bayesian framework.

Accurate identification of genes associated with brain disorders by integrating heterogeneous genomic data into a Bayesian framework.

Journal: EBioMedicine

Published: April 30, 2023

Genome-wide detection of human variants that disrupt intronic branchpoints.

Genome-wide detection of human variants that disrupt intronic branchpoints.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: October 28, 2022

Showing 1-12 of 54

Last Updated: 09/26/2026