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Genetics

D-Index
53
Citations
77732
World Ranking
3670
National Ranking
433

Overview

Peter D. Stenson is affiliated with Cardiff University in the United Kingdom. Their primary domain of research lies within Biochemistry, Genetics and Molecular Biology, where they have contributed to 75 publications. Within this broader field, their work is notably concentrated in the subfields of Molecular Biology, Genetics, Cancer Research, Infectious Diseases, and Plant Science.

The scientist's research topics cover a range of interrelated areas including:

  • Genomics and Rare Diseases
  • RNA and protein synthesis mechanisms
  • Cancer Genomics and Diagnostics
  • RNA modifications and cancer
  • Genomics and Phylogenetic Studies
  • Genetic Associations and Epidemiology
  • RNA Research and Splicing

Peter D. Stenson has authored and co-authored several papers across prominent journals. Some recent publications include:

  • The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting, 2020, Human Genetics
  • Phylogenomic analyses provide insights into primate evolution, 2023, Science
  • AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature, 2020, Science Translational Medicine
  • The genetic structure of the Turkish population reveals high levels of variation and admixture, 2021, Proceedings of the National Academy of Sciences
  • Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity, 2022, The American Journal of Human Genetics

The venues where their work has frequently appeared include:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Human Genetics
  • Proceedings of the National Academy of Sciences
  • The American Journal of Human Genetics
  • Genome Medicine

Collaboration is a notable aspect of their research activities. Some of the scientists with whom they have frequently co-authored include:

  • D.N. Cooper
  • Yuval Itan
  • Meltem Ece Kars
  • Çiğdem Sevim Bayrak
  • Jean-Laurent Casanova

Best Publications

  • A global reference for human genetic variation.

    Adam Auton;Gonçalo R. Abecasis;David M. Altshuler;Richard M. Durbin

  • An integrated map of genetic variation from 1,092 human genomes

    Goncalo R Abecasis;Adam Auton;Lisa D Brooks

  • Analysis of protein-coding genetic variation in 60,706 humans

    Monkol Lek;Konrad J. Karczewski;Konrad J. Karczewski;Eric V. Minikel;Eric V. Minikel;Kaitlin E. Samocha

  • Table S2: Trans-factors and trinucleotide repeat instability Trans-factor

    Arturo López Castel;John D Cleary;Christopher E Pearson

  • Genome sequence of the Brown Norway rat yields insights into mammalian evolution

    Richard A. Gibbs;George M. Weinstock;Michael L. Metzker;Donna M. Muzny

  • Human Gene Mutation Database (HGMD): 2003 update.

    Peter Daniel Stenson;Edward Vincent Ball;Matthew Edwin Mort;Andrew David Phillips

  • Evolutionary and biomedical insights from the rhesus macaque genome

    Richard A. Gibbs;Jeffrey Rogers

  • The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

    Peter D. Stenson;Matthew Mort;Edward V. Ball;Katy Evans

  • The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

    Peter D. Stenson;Matthew Mort;Edward V. Ball;Katy Shaw

  • Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models.

    Hashem A. Shihab;Julian Gough;David Neil Cooper;Peter Daniel Stenson

  • The Human Gene Mutation Database: 2008 update

    Peter Daniel Stenson;Matthew Mort;Edward Ball;Katy Howells

  • A global reference for human genetic variation

    Adam Auton;Gonçalo R. Abecasis;David M. Altshuler;Richard M. Durbin

  • Insights into hominid evolution from the gorilla genome sequence

    Aylwyn Scally;Julien Y. Dutheil;LaDeana W. Hillier;Gregory E. Jordan

  • M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

    Karthik A. Jagadeesh;Aaron M. Wenger;Mark J. Berger;Harendra Guturu

  • A map of human genome variation from population-scale sequencing

    Richard M. Durbin;David L. Altshuler;Gonçalo R. Abecasis;David R. Bentley

  • Identifying Mendelian disease genes with the Variant Effect Scoring Tool

    Hannah Carter;Christopher Douville;Peter D. Stenson;David Neil Cooper

  • 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

  • Human gene mutation database-a biomedical information and research resource.

    Michael Krawczak;Edward V. Ball;Iain Fenton;Peter D. Stenson

  • The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity

    Dominik G. Grimm;Dominik G. Grimm;Dominik G. Grimm;Chloé-Agathe Azencott;Fabian Aicheler;Fabian Aicheler;Udo Gieraths

  • Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaques

    Guangmei Yan;Guojie Zhang;Xiaodong Fang;Yanfeng Zhang

Frequent Co-Authors

David Neil Cooper
David Neil Cooper Cardiff University
Matthew Mort
Matthew Mort Cardiff University
Laurent Abel
Laurent Abel Université Paris Cité
Bertrand Boisson
Bertrand Boisson Rockefeller University
Daniel G. MacArthur
Daniel G. MacArthur Garvan Institute of Medical Research
Mark J. Daly
Mark J. Daly Massachusetts General Hospital
Lluis Quintana-Murci
Lluis Quintana-Murci Institut Pasteur
Gill Bejerano
Gill Bejerano Stanford University
Nadia Chuzhanova
Nadia Chuzhanova Nottingham Trent University
Michael Krawczak
Michael Krawczak Kiel University

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