Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

10.1038/gim.2016.90

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Bibliographic Details
Main Authors:	Walsh R., Thomson K.L., Ware J.S., Funke B.H., Woodley J., McGuire K.J., Mazzarotto F., Blair E., Seller A., Taylor J.C., Minikel E.V., MacArthur D.G., Farrall M., Cook S.A., Watkins H.
Other Authors:	DUKE-NUS MEDICAL SCHOOL
Format:	Article
Published:	Nature Publishing Group 2019
Subjects:	Clinical genetics Exome Aggregation Consortium Inherited cardiomyopathy Mendelian genetics Variation interpretation
Online Access:	http://scholarbank.nus.edu.sg/handle/10635/150638
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Institution:	National University of Singapore

id	sg-nus-scholar.10635-150638
record_format	dspace
spelling	sg-nus-scholar.10635-1506382023-09-20T09:03:05Z Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples Walsh R. Thomson K.L. Ware J.S. Funke B.H. Woodley J. McGuire K.J. Mazzarotto F. Blair E. Seller A. Taylor J.C. Minikel E.V. MacArthur D.G. Farrall M. Cook S.A. Watkins H. DUKE-NUS MEDICAL SCHOOL Clinical genetics Exome Aggregation Consortium Inherited cardiomyopathy Mendelian genetics Variation interpretation 10.1038/gim.2016.90 Genetics in Medicine 19 2 192-203 GEMEF 2019-01-08T09:07:46Z 2019-01-08T09:07:46Z 2017 Article Walsh R., Thomson K.L., Ware J.S., Funke B.H., Woodley J., McGuire K.J., Mazzarotto F., Blair E., Seller A., Taylor J.C., Minikel E.V., MacArthur D.G., Farrall M., Cook S.A., Watkins H. (2017). Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genetics in Medicine 19 (2) : 192-203. ScholarBank@NUS Repository. https://doi.org/10.1038/gim.2016.90 10983600 http://scholarbank.nus.edu.sg/handle/10635/150638 Nature Publishing Group Scopus
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	Clinical genetics Exome Aggregation Consortium Inherited cardiomyopathy Mendelian genetics Variation interpretation
spellingShingle	Clinical genetics Exome Aggregation Consortium Inherited cardiomyopathy Mendelian genetics Variation interpretation Walsh R. Thomson K.L. Ware J.S. Funke B.H. Woodley J. McGuire K.J. Mazzarotto F. Blair E. Seller A. Taylor J.C. Minikel E.V. MacArthur D.G. Farrall M. Cook S.A. Watkins H. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
description	10.1038/gim.2016.90
author2	DUKE-NUS MEDICAL SCHOOL
author_facet	DUKE-NUS MEDICAL SCHOOL Walsh R. Thomson K.L. Ware J.S. Funke B.H. Woodley J. McGuire K.J. Mazzarotto F. Blair E. Seller A. Taylor J.C. Minikel E.V. MacArthur D.G. Farrall M. Cook S.A. Watkins H.
format	Article
author	Walsh R. Thomson K.L. Ware J.S. Funke B.H. Woodley J. McGuire K.J. Mazzarotto F. Blair E. Seller A. Taylor J.C. Minikel E.V. MacArthur D.G. Farrall M. Cook S.A. Watkins H.
author_sort	Walsh R.
title	Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
title_short	Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
title_full	Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
title_fullStr	Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
title_full_unstemmed	Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
title_sort	reassessment of mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
publisher	Nature Publishing Group
publishDate	2019
url	http://scholarbank.nus.edu.sg/handle/10635/150638
_version_	1778168964535287808

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

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