Nature Communications (Jan 2020)
Human and mouse essentiality screens as a resource for disease gene discovery
- Pilar Cacheiro,
- Violeta Muñoz-Fuentes,
- Stephen A. Murray,
- Mary E. Dickinson,
- Maja Bucan,
- Lauryl M. J. Nutter,
- Kevin A. Peterson,
- Hamed Haselimashhadi,
- Ann M. Flenniken,
- Hugh Morgan,
- Henrik Westerberg,
- Tomasz Konopka,
- Chih-Wei Hsu,
- Audrey Christiansen,
- Denise G. Lanza,
- Arthur L. Beaudet,
- Jason D. Heaney,
- Helmut Fuchs,
- Valerie Gailus-Durner,
- Tania Sorg,
- Jan Prochazka,
- Vendula Novosadova,
- Christopher J. Lelliott,
- Hannah Wardle-Jones,
- Sara Wells,
- Lydia Teboul,
- Heather Cater,
- Michelle Stewart,
- Tertius Hough,
- Wolfgang Wurst,
- Radislav Sedlacek,
- David J. Adams,
- John R. Seavitt,
- Glauco Tocchini-Valentini,
- Fabio Mammano,
- Robert E. Braun,
- Colin McKerlie,
- Yann Herault,
- Martin Hrabě de Angelis,
- Ann-Marie Mallon,
- K. C. Kent Lloyd,
- Steve D. M. Brown,
- Helen Parkinson,
- Terrence F. Meehan,
- Damian Smedley,
- The Genomics England Research Consortium,
- The International Mouse Phenotyping Consortium
Affiliations
- Pilar Cacheiro
- Clinical Pharmacology, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London
- Violeta Muñoz-Fuentes
- European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI)
- Stephen A. Murray
- The Jackson Laboratory
- Mary E. Dickinson
- Departments of Molecular Physiology and Biophysics, Baylor College of Medicine
- Maja Bucan
- Department of Genetics, Perelman School of Medicine, University of Pennsylvania
- Lauryl M. J. Nutter
- The Centre for Phenogenomics, The Hospital for Sick Children
- Kevin A. Peterson
- The Jackson Laboratory
- Hamed Haselimashhadi
- European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI)
- Ann M. Flenniken
- The Centre for Phenogenomics, Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital
- Hugh Morgan
- Medical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre)
- Henrik Westerberg
- Medical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre)
- Tomasz Konopka
- Clinical Pharmacology, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London
- Chih-Wei Hsu
- Departments of Molecular Physiology and Biophysics, Baylor College of Medicine
- Audrey Christiansen
- Departments of Molecular Physiology and Biophysics, Baylor College of Medicine
- Denise G. Lanza
- Departments of Molecular and Human Genetics, Baylor College of Medicine
- Arthur L. Beaudet
- Departments of Molecular and Human Genetics, Baylor College of Medicine
- Jason D. Heaney
- Departments of Molecular and Human Genetics, Baylor College of Medicine
- Helmut Fuchs
- German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health
- Valerie Gailus-Durner
- German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health
- Tania Sorg
- Université de Strasbourg, CNRS, INSERM, Institut Clinique de la Souris, PHENOMIN-ICS
- Jan Prochazka
- Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences
- Vendula Novosadova
- Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences
- Christopher J. Lelliott
- Wellcome Trust Sanger Institute
- Hannah Wardle-Jones
- Wellcome Trust Sanger Institute
- Sara Wells
- Medical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre)
- Lydia Teboul
- Medical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre)
- Heather Cater
- Medical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre)
- Michelle Stewart
- Medical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre)
- Tertius Hough
- Medical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre)
- Wolfgang Wurst
- Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH
- Radislav Sedlacek
- Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences
- David J. Adams
- Wellcome Trust Sanger Institute
- John R. Seavitt
- Departments of Molecular and Human Genetics, Baylor College of Medicine
- Glauco Tocchini-Valentini
- Monterotondo Mouse Clinic, Italian National Research Council (CNR), Institute of Cell Biology and Neurobiology
- Fabio Mammano
- Monterotondo Mouse Clinic, Italian National Research Council (CNR), Institute of Cell Biology and Neurobiology
- Robert E. Braun
- The Jackson Laboratory
- Colin McKerlie
- The Centre for Phenogenomics, The Hospital for Sick Children
- Yann Herault
- Université de Strasbourg, CNRS, INSERM, Institut de Génétique, Biologie Moléculaire et Cellulaire, Institut Clinique de la Souris, IGBMC, PHENOMIN-ICS
- Martin Hrabě de Angelis
- German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health
- Ann-Marie Mallon
- Medical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre)
- K. C. Kent Lloyd
- Mouse Biology Program, University of California
- Steve D. M. Brown
- Medical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre)
- Helen Parkinson
- European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI)
- Terrence F. Meehan
- European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI)
- Damian Smedley
- Clinical Pharmacology, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London
- The Genomics England Research Consortium
- The International Mouse Phenotyping Consortium
- DOI
- https://doi.org/10.1038/s41467-020-14284-2
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 16
Abstract
Discovery of causal variants for monogenic disorders has been facilitated by whole exome and genome sequencing, but does not provide a diagnosis for all patients. Here, the authors propose a Full Spectrum of Intolerance to Loss-of-Function (FUSIL) categorization that integrates gene essentiality information to aid disease gene discovery.
