التفاصيل البيبلوغرافية
العنوان:
Human and mouse essentiality screens as a resource for disease gene discovery
المؤلفون:
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
المصدر:
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
بيانات النشر:
Nature Portfolio, 2020.
سنة النشر:
2020
المجموعة:
LCC:Science
مصطلحات موضوعية:
Science
الوصف:
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.
نوع الوثيقة:
article
وصف الملف:
electronic resource
اللغة:
English
تدمد:
2041-1723
Relation:
https://doaj.org/toc/2041-1723
DOI:
10.1038/s41467-020-14284-2
URL الوصول:
https://doaj.org/article/38973450f49d45729ee9836b3968bc61
رقم الأكسشن:
edsdoj.38973450f49d45729ee9836b3968bc61
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