학술논문
Human and mouse essentiality screens as a resource for disease gene discovery
Document Type
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
Source
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Subject
Language
English
ISSN
2041-1723
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.