Author details

Full Name

Peter D Stenson

Affiliation

ORCID

Career Start Year

2000

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37262173	Phylogenomic analyses provide insights into primate evolution.	Science	2023
36352240	Identifying shared genetic factors underlying epilepsy and congenital heart disease in Europeans.	Hum Genet	2023
36344696	Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections.	Hum Genet	2023
38037155	Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set.	Genome Med	2023
37931111	Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.	Proc Natl Acad Sci U S A	2023
37080976	Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients.	Nat Commun	2023
35120630	Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.	Am J Hum Genet	2022
36306325	Genome-wide detection of human variants that disrupt intronic branchpoints.	Proc Natl Acad Sci U S A	2022
35906703	X-CAP improves pathogenicity prediction of stopgain variants.	Genome Med	2022
34918412	Distinct sequence features underlie microdeletions and gross deletions in the human genome.	Hum Mutat	2022
34426522	The genetic structure of the Turkish population reveals high levels of variation and admixture.	Proc Natl Acad Sci U S A	2021
34173867	Compensatory epistasis explored by molecular dynamics simulations.	Hum Genet	2021
34762822	Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants.	Am J Hum Genet	2021
31467448	AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature.	Genet Med	2020
32434849	AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature.	Sci Transl Med	2020
32487729	Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes.	Proc Natl Acad Sci U S A	2020
32596782	The Human Gene Mutation Database (HGMD<sup>Â®</sup>): optimizing its use in a clinical diagnostic or research setting.	Hum Genet	2020
31045209	SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data.	Nucleic Acids Res	2019
30591557	Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis.	Proc Natl Acad Sci U S A	2019
30804562	S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing.	Nat Genet	2019
31515488	Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.	Nat Commun	2019
29997612	CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.	Front Immunol	2018
28100260	iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations.	Genome Biol	2017
28349240	The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.	Hum Genet	2017
27535533	Analysis of protein-coding genetic variation in 60,706 humans.	Nature	2016
26841357	mutation3D: Cancer Gene Prediction Through Atomic Clustering of Coding Variants in the Structural Proteome.	Hum Mutat	2016
26820543	The mutation significance cutoff: gene-level thresholds for variant predictions.	Nat Methods	2016
26442818	Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel).	Hum Mutat	2016
27776117	M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity.	Nat Genet	2016
26246501	Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns.	Hum Mol Genet	2015
25684150	The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity.	Hum Mutat	2015
25954003	Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.	Science	2015
26483451	The human gene damage index as a gene-level approach to prioritizing exome variants.	Proc Natl Acad Sci U S A	2015
26092435	Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.	Hum Genomics	2015
26046366	Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.	Am J Hum Genet	2015
24599843	Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networks.	Hum Mutat	2014
25502805	A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations.	PLoS Genet	2014
24077912	The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.	Hum Genet	2014
25188385	A probabilistic model to predict clinical phenotypic traits from genome sequencing.	PLoS Comput Biol	2014
23325621	CRAVAT: cancer-related analysis of variants toolkit.	Bioinformatics	2013
23819870	Identifying Mendelian disease genes with the variant effect scoring tool.	BMC Genomics	2013
23861362	Interpreting secondary cardiac disease variants in an exome cohort.	Circ Cardiovasc Genet	2013
24195946	Using exome data to identify malignant hyperthermia susceptibility mutations.	Anesthesiology	2013
23793516	MuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structures.	Hum Genet	2013
23033316	Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models.	Hum Mutat	2013
23217326	Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.	Am J Hum Genet	2012
22398555	Insights into hominid evolution from the gorilla genome sequence.	Nature	2012
22948725	The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution.	Curr Protoc Bioinformatics	2012
22002653	Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaques.	Nat Biotechnol	2011
21432943	Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes.	Hum Mutat	2011