Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

10.1038/s41436-020-00972-3

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Main Authors:	Zhang, Xiaolei, Walsh, Roddy, Whiffin, Nicola, Buchan, Rachel, Midwinter, William, Wilk, Alicja, Govind, Risha, Li, Nicholas, Ahmad, Mian, Mazzarotto, Francesco, Roberts, Angharad, Theotokis, Pantazis I., Mazaika, Erica, Allouba, Mona, de Marvao, Antonio, Pua, Chee Jian, Day, Sharlene M., Ashley, Euan, Colan, Steven D., Michels, Michelle, Pereira, Alexandre C., Jacoby, Daniel, Ho, Carolyn Y., Olivotto, Iacopo, Gunnarsson, Gunnar T., Jefferies, John L., Semsarian, Chris, Ingles, Jodie, O’Regan, D.P., Aguib, Yasmine, Yacoub, Magdi H., Cook, Stuart A., Barton, Paul J. R., Bottolo, Leonardo, Ware, James S.
Other Authors:	DUKE-NUS MEDICAL SCHOOL
Format:	Article
Published:	Springer Nature 2022
Subjects:	Brugada syndrome cardiomyopathy long QT syndrome missense variant interpretation pathogenicity prediction
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/232254
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Institution:	National University of Singapore

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spelling	sg-nus-scholar.10635-2322542023-07-30T22:21:26Z Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions Zhang, Xiaolei Walsh, Roddy Whiffin, Nicola Buchan, Rachel Midwinter, William Wilk, Alicja Govind, Risha Li, Nicholas Ahmad, Mian Mazzarotto, Francesco Roberts, Angharad Theotokis, Pantazis I. Mazaika, Erica Allouba, Mona de Marvao, Antonio Pua, Chee Jian Day, Sharlene M. Ashley, Euan Colan, Steven D. Michels, Michelle Pereira, Alexandre C. Jacoby, Daniel Ho, Carolyn Y. Olivotto, Iacopo Gunnarsson, Gunnar T. Jefferies, John L. Semsarian, Chris Ingles, Jodie O’Regan, D.P. Aguib, Yasmine Yacoub, Magdi H. Cook, Stuart A. Barton, Paul J. R. Bottolo, Leonardo Ware, James S. DUKE-NUS MEDICAL SCHOOL Brugada syndrome cardiomyopathy long QT syndrome missense variant interpretation pathogenicity prediction 10.1038/s41436-020-00972-3 Genetics in Medicine 23 1 69-79 2022-10-11T08:10:33Z 2022-10-11T08:10:33Z 2020-10-13 Article Zhang, Xiaolei, Walsh, Roddy, Whiffin, Nicola, Buchan, Rachel, Midwinter, William, Wilk, Alicja, Govind, Risha, Li, Nicholas, Ahmad, Mian, Mazzarotto, Francesco, Roberts, Angharad, Theotokis, Pantazis I., Mazaika, Erica, Allouba, Mona, de Marvao, Antonio, Pua, Chee Jian, Day, Sharlene M., Ashley, Euan, Colan, Steven D., Michels, Michelle, Pereira, Alexandre C., Jacoby, Daniel, Ho, Carolyn Y., Olivotto, Iacopo, Gunnarsson, Gunnar T., Jefferies, John L., Semsarian, Chris, Ingles, Jodie, O’Regan, D.P., Aguib, Yasmine, Yacoub, Magdi H., Cook, Stuart A., Barton, Paul J. R., Bottolo, Leonardo, Ware, James S. (2020-10-13). Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions. Genetics in Medicine 23 (1) : 69-79. ScholarBank@NUS Repository. https://doi.org/10.1038/s41436-020-00972-3 1098-3600 https://scholarbank.nus.edu.sg/handle/10635/232254 Attribution 4.0 International https://creativecommons.org/licenses/by/4.0/ Springer Nature Scopus OA2021
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	Brugada syndrome cardiomyopathy long QT syndrome missense variant interpretation pathogenicity prediction
spellingShingle	Brugada syndrome cardiomyopathy long QT syndrome missense variant interpretation pathogenicity prediction Zhang, Xiaolei Walsh, Roddy Whiffin, Nicola Buchan, Rachel Midwinter, William Wilk, Alicja Govind, Risha Li, Nicholas Ahmad, Mian Mazzarotto, Francesco Roberts, Angharad Theotokis, Pantazis I. Mazaika, Erica Allouba, Mona de Marvao, Antonio Pua, Chee Jian Day, Sharlene M. Ashley, Euan Colan, Steven D. Michels, Michelle Pereira, Alexandre C. Jacoby, Daniel Ho, Carolyn Y. Olivotto, Iacopo Gunnarsson, Gunnar T. Jefferies, John L. Semsarian, Chris Ingles, Jodie O’Regan, D.P. Aguib, Yasmine Yacoub, Magdi H. Cook, Stuart A. Barton, Paul J. R. Bottolo, Leonardo Ware, James S. Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
description	10.1038/s41436-020-00972-3
author2	DUKE-NUS MEDICAL SCHOOL
author_facet	DUKE-NUS MEDICAL SCHOOL Zhang, Xiaolei Walsh, Roddy Whiffin, Nicola Buchan, Rachel Midwinter, William Wilk, Alicja Govind, Risha Li, Nicholas Ahmad, Mian Mazzarotto, Francesco Roberts, Angharad Theotokis, Pantazis I. Mazaika, Erica Allouba, Mona de Marvao, Antonio Pua, Chee Jian Day, Sharlene M. Ashley, Euan Colan, Steven D. Michels, Michelle Pereira, Alexandre C. Jacoby, Daniel Ho, Carolyn Y. Olivotto, Iacopo Gunnarsson, Gunnar T. Jefferies, John L. Semsarian, Chris Ingles, Jodie O’Regan, D.P. Aguib, Yasmine Yacoub, Magdi H. Cook, Stuart A. Barton, Paul J. R. Bottolo, Leonardo Ware, James S.
format	Article
author	Zhang, Xiaolei Walsh, Roddy Whiffin, Nicola Buchan, Rachel Midwinter, William Wilk, Alicja Govind, Risha Li, Nicholas Ahmad, Mian Mazzarotto, Francesco Roberts, Angharad Theotokis, Pantazis I. Mazaika, Erica Allouba, Mona de Marvao, Antonio Pua, Chee Jian Day, Sharlene M. Ashley, Euan Colan, Steven D. Michels, Michelle Pereira, Alexandre C. Jacoby, Daniel Ho, Carolyn Y. Olivotto, Iacopo Gunnarsson, Gunnar T. Jefferies, John L. Semsarian, Chris Ingles, Jodie O’Regan, D.P. Aguib, Yasmine Yacoub, Magdi H. Cook, Stuart A. Barton, Paul J. R. Bottolo, Leonardo Ware, James S.
author_sort	Zhang, Xiaolei
title	Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
title_short	Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
title_full	Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
title_fullStr	Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
title_full_unstemmed	Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
title_sort	disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
publisher	Springer Nature
publishDate	2022
url	https://scholarbank.nus.edu.sg/handle/10635/232254
_version_	1773551085721485312

Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

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