Publications by authors named "Peter D Stenson"

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Expanding the utility of variant effect predictions with phenotype-specific models.
David Stein, Meltem Ece Kars, Baptiste Milisavljevic, Matthew Mort, Peter D Stenson

Nat Commun· November 2025

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Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data.
Meltem Ece Kars, David Stein, Peter D Stenson, David N Cooper, Wendy K Chung

Am J Hum Genet· March 2025

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Accurate identification of genes associated with brain disorders by integrating heterogeneous genomic data into a Bayesian framework.
Dan He, Ling Li, Huasong Zhang, Feiyi Liu, Shaoying Li, Peter D Stenson

EBioMedicine· September 2024

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The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson's disease comorbidity.
Meltem Ece Kars, Yiming Wu, Peter D Stenson, David N Cooper, Johan Burisch

Genome Med· May 2024

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Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Peng Zhang, Matthieu Chaldebas, Masato Ogishi, Fahd Al Qureshah, Khoren Ponsin, Peter D Stenson

Proc Natl Acad Sci U S A· November 2023

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Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set.
David Stein, Meltem Ece Kars, Yiming Wu, Çiğdem Sevim Bayrak, Peter D Stenson

Genome Med· November 2023

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Phylogenomic analyses provide insights into primate evolution.
Yong Shao, Long Zhou, Fang Li, Lan Zhao, Bao-Lin Zhang, Peter D Stenson

Science· June 2023

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Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients.
Yiming Wu, Kyle Gettler, Meltem Ece Kars, Mamta Giri, Dalin Li, Peter D Stenson

Nat Commun· April 2023

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Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections.
Cong Fan, Ken Chen, Yukai Wang, Edward V Ball, Peter D Stenson

Hum Genet· February 2023

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Identifying shared genetic factors underlying epilepsy and congenital heart disease in Europeans.
Yiming Wu, Cigdem Sevim Bayrak, Bosi Dong, Shixu He, Peter D Stenson

Hum Genet· February 2023

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Genome-wide detection of human variants that disrupt intronic branchpoints.
Peng Zhang, Quentin Philippot, Weicheng Ren, Wei-Te Lei, Juan Li, Peter D Stenson

Proc Natl Acad Sci U S A· November 2022

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X-CAP improves pathogenicity prediction of stopgain variants.
Ruchir Rastogi, Peter D Stenson, David N Cooper, Gill Bejerano

Genome Med· July 2022

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Distinct sequence features underlie microdeletions and gross deletions in the human genome.
Mengling Qi, Peter D Stenson, Edward V Ball, John A Tainer, Albino Bacolla

Hum Mutat· March 2022

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Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.
Mathieu Quinodoz, Virginie G Peter, Katarina Cisarova, Beryl Royer-Bertrand, Peter D Stenson

Am J Hum Genet· March 2022

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Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants.
Cigdem Sevim Bayrak, David Stein, Aayushee Jain, Kumardeep Chaudhary, Girish N Nadkarni, Peter D Stenson

Am J Hum Genet· December 2021

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Compensatory epistasis explored by molecular dynamics simulations.
Catarina Serrano, Carla S S Teixeira, David N Cooper, João Carneiro, Mónica Lopes-Marques, Peter D Stenson

Hum Genet· September 2021

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The genetic structure of the Turkish population reveals high levels of variation and admixture.
M Ece Kars, A Nazlı Başak, O Emre Onat, Kaya Bilguvar, Jungmin Choi, Peter D Stenson

Proc Natl Acad Sci U S A· September 2021

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The Human Gene Mutation Database (HGMD): optimizing its use in a clinical diagnostic or research setting.
Peter D Stenson, Matthew Mort, Edward V Ball, Molly Chapman, Katy Evans

Hum Genet· October 2020

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Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes.
Antonio Rausell, Yufei Luo, Marie Lopez, Yoann Seeleuthner, Franck Rapaport, Peter D Stenson

Proc Natl Acad Sci U S A· June 2020

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AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature.
Johannes Birgmeier, Maximilian Haeussler, Cole A Deisseroth, Ethan H Steinberg, Karthik A Jagadeesh, Peter D Stenson

Sci Transl Med· May 2020

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AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature.
Johannes Birgmeier, Cole A Deisseroth, Laura E Hayward, Luisa M T Galhardo, Andrew P Tierno, Peter D Stenson

Genet Med· February 2020

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Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Robert Fragoza, Jishnu Das, Shayne D Wierbowski, Jin Liang, Tina N Tran, Peter D Stenson

Nat Commun· September 2019

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SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data.
Peng Zhang, Bertrand Boisson, Peter D Stenson, David N Cooper, Jean-Laurent Casanova

Nucleic Acids Res· July 2019

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S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing.
Karthik A Jagadeesh, Joseph M Paggi, James S Ye, Peter D Stenson, David N Cooper

Nat Genet· April 2019

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Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis.
Patrick Maffucci, Benedetta Bigio, Franck Rapaport, Aurélie Cobat, Alessandro Borghesi, Peter D Stenson

Proc Natl Acad Sci U S A· January 2019

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