Human and mouse essentiality screens as a resource for disease gene discovery

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 inf...

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/38973450f49d45729ee9836b3968bc61
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spelling	oai:doaj.org-article:38973450f49d45729ee9836b3968bc612021-12-02T14:41:24ZHuman and mouse essentiality screens as a resource for disease gene discovery10.1038/s41467-020-14284-22041-1723https://doaj.org/article/38973450f49d45729ee9836b3968bc612020-01-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-14284-2https://doaj.org/toc/2041-1723Discovery 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.Pilar CacheiroVioleta Muñoz-FuentesStephen A. MurrayMary E. DickinsonMaja BucanLauryl M. J. NutterKevin A. PetersonHamed HaselimashhadiAnn M. FlennikenHugh MorganHenrik WesterbergTomasz KonopkaChih-Wei HsuAudrey ChristiansenDenise G. LanzaArthur L. BeaudetJason D. HeaneyHelmut FuchsValerie Gailus-DurnerTania SorgJan ProchazkaVendula NovosadovaChristopher J. LelliottHannah Wardle-JonesSara WellsLydia TeboulHeather CaterMichelle StewartTertius HoughWolfgang WurstRadislav SedlacekDavid J. AdamsJohn R. SeavittGlauco Tocchini-ValentiniFabio MammanoRobert E. BraunColin McKerlieYann HeraultMartin Hrabě de AngelisAnn-Marie MallonK. C. Kent LloydSteve D. M. BrownHelen ParkinsonTerrence F. MeehanDamian SmedleyThe Genomics England Research ConsortiumThe International Mouse Phenotyping ConsortiumNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 Human and mouse essentiality screens as a resource for disease gene discovery
description	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.
format	article
author	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
author_facet	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
author_sort	Pilar Cacheiro
title	Human and mouse essentiality screens as a resource for disease gene discovery
title_short	Human and mouse essentiality screens as a resource for disease gene discovery
title_full	Human and mouse essentiality screens as a resource for disease gene discovery
title_fullStr	Human and mouse essentiality screens as a resource for disease gene discovery
title_full_unstemmed	Human and mouse essentiality screens as a resource for disease gene discovery
title_sort	human and mouse essentiality screens as a resource for disease gene discovery
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/38973450f49d45729ee9836b3968bc61
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Human and mouse essentiality screens as a resource for disease gene discovery

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