Using whole genome sequence findings to assess gene-disease causality in cardiomyopathy and arrhythmia patients.

Krishnan, Aishwarya Rajesh; Schwartz, Marci Lb; Somerville, Cherith; Ding, Qiliang; Kim, Raymond H

Krishnan, Aishwarya Rajesh; Schwartz, Marci Lb; Somerville, Cherith; Ding, Qiliang; Kim, Raymond H.

Afiliação

Krishnan AR; Division of Clinical & Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada.
Schwartz ML; Division of Clinical & Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada.
Somerville C; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada.
Ding Q; Division of Clinical & Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada.
Kim RH; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada.

Future Cardiol ; 19(12): 583-592, 2023 09.

Article em En | MEDLINE | ID: mdl-37830358

Assuntos

Cardiomiopatias; Humanos; Cardiomiopatias/genética; Arritmias Cardíacas/genética; Fenótipo

Palavras-chave

MYH6; TPCN1; arrhythmia; cardiomyopathy; gene curation; gene-disease validity; whole genome sequencing

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cardiomiopatias Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo

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XML

PubMed Links

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cardiomiopatias Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article