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Biology and Biochemistry

D-Index
57
Citations
33559
World Ranking
13504
National Ranking
5727

Overview

Sean D. Mooney is affiliated with the University of Washington in the United States. Their research spans the fields of Biochemistry, Genetics and Molecular Biology, and Medicine, with a substantial focus on Artificial Intelligence, Genetics, and Molecular Biology as subfields.

Their work covers a variety of topics within these fields, including:

  • Machine Learning in Healthcare
  • Genomics and Rare Diseases
  • Artificial Intelligence in Healthcare and Education
  • Artificial Intelligence in Healthcare
  • Biomedical Text Mining and Ontologies
  • Genetic Neurodegenerative Diseases
  • Cancer Genomics and Diagnostics

Sean D. Mooney has published in multiple journals, with frequent appearances in:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • arXiv (Cornell University)
  • npj Digital Medicine
  • Journal of the American Medical Informatics Association
  • Faculty of 1000 Research Ltd

Collaborations are an important aspect of their work, with frequent co-authors including:

  • Vikas Pejaver
  • Justin Guinney
  • Noah Hammarlund
  • Timothy Bergquist
  • Kizito-Tshitoko Tshilenge

Some recent papers authored or co-authored by Sean D. Mooney are:

  • Inferring the molecular and phenotypic impact of amino acid variants with MutPred2, 2020, Nature Communications
  • Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria, 2022, The American Journal of Human Genetics
  • Considering the possibilities and pitfalls of Generative Pre-trained Transformer 3 (GPT-3) in healthcare delivery, 2021, npj Digital Medicine
  • The role of exome sequencing in newborn screening for inborn errors of metabolism, 2020, Nature Medicine
  • Rationale and design of the Kidney Precision Medicine Project, 2021, Kidney International

Best Publications

  • Comprehensive molecular portraits of human breast tumours

    Daniel C. Koboldt;Robert S. Fulton;Michael D. McLellan;Heather Schmidt

  • A large-scale evaluation of computational protein function prediction

    Predrag Radivojac;Wyatt T Clark;Tal Ronnen Oron;Alexandra M Schnoes

  • Automated inference of molecular mechanisms of disease from amino acid substitutions

    Biao Li;Vidhya G. Krishnan;Matthew E. Mort;Fuxiao Xin

  • Inferring the molecular and phenotypic impact of amino acid variants with MutPred2.

    Vikas Pejaver;Vikas Pejaver;Jorge Urresti;Jose Lugo-Martinez;Jose Lugo-Martinez;Kymberleigh A. Pagel;Kymberleigh A. Pagel

  • An expanded evaluation of protein function prediction methods shows an improvement in accuracy

    Yuxiang Jiang;Tal Ronnen Oron;Wyatt T. Clark;Asma R. Bankapur

  • Label-free quantitative proteomics of the lysine acetylome in mitochondria identifies substrates of SIRT3 in metabolic pathways

    Matthew J. Rardin;John C. Newman;Jason M. Held;Michael P. Cusack

  • The CAFA challenge reports improved protein function prediction and new functional annotations for hundreds of genes through experimental screens

    Naihui Zhou;Yuxiang Jiang;Timothy R. Bergquist;Alexandra J. Lee

  • Genetic correction of Huntington's disease phenotypes in induced pluripotent stem cells.

    Mahru C. An;Ningzhe Zhang;Gary Scott;Daniel Montoro

  • Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts

    Jeremy R. Sanford;Xin Wang;Matthew Mort;Natalia VanDuyn

  • Indicators of retention in remote digital health studies: a cross-study evaluation of 100,000 participants

    Abhishek Pratap;Abhishek Pratap;Elias Chaibub Neto;Phil Snyder;Carl Stepnowsky

  • Late-life rapamycin treatment reverses age-related heart dysfunction

    James M. Flynn;Monique N. O'Leary;Christopher A. Zambataro;Emmeline C. Academia

  • An expanded evaluation of protein function prediction methods shows an improvement in accuracy

    Yuxiang Jiang;Tal Ronnen Oron;Wyatt T Clark;Asma R Bankapur

  • Newborn Sequencing in Genomic Medicine and Public Health.

    Jonathan S. Berg;Pankaj B. Agrawal;Donald B. Bailey;Alan H. Beggs

  • A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis.

    Tobias Larsson;Xijie Yu;Siobhan I. Davis;Mohamad S. Draman

  • Bioinformatics approaches and resources for single nucleotide polymorphism functional analysis

    Sean D. Mooney

  • An integrated approach to inferring gene–disease associations in humans

    Predrag Radivojac;Kang Peng;Wyatt T. Clark;Brandon J. Peters

  • Considering the possibilities and pitfalls of Generative Pre-trained Transformer 3 (GPT-3) in healthcare delivery.

    Diane M. Korngiebel;Sean D. Mooney

  • Proteomic analysis of age-dependent changes in protein solubility identifies genes that modulate lifespan.

    Pedro Reis-Rodrigues;Gregg Czerwieniec;Theodore W. Peters;Uday S. Evani

  • High-performance web services for querying gene and variant annotation

    Jiwen Xin;Adam Mark;Cyrus Afrasiabi;Ginger Tsueng

  • Additional file 1 of An expanded evaluation of protein function prediction methods shows an improvement in accuracy

    Yuxiang Jiang;Tal Ronnen Oron;Wyatt T. Clark;Asma R. Bankapur

Frequent Co-Authors

Predrag Radivojac
Predrag Radivojac Northeastern University
Steven E. Brenner
Steven E. Brenner University of California, Berkeley
David Neil Cooper
David Neil Cooper Cardiff University
Matthew Mort
Matthew Mort Cardiff University
Rita Casadio
Rita Casadio University of Bologna
Teri E. Klein
Teri E. Klein Stanford University
Christophe Dessimoz
Christophe Dessimoz University College London
Patricia C. Babbitt
Patricia C. Babbitt University of California, San Francisco
David T. Jones
David T. Jones University College London
Olivier Lichtarge
Olivier Lichtarge Baylor College of Medicine

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