Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy.

Kurzlechner, Leonie M; Jones, Edward G; Berkman, Amy M; Tadros, Hanna J; Rosenfeld, Jill A; Yang, Yaping; Tunuguntla, Hari; Allen, Hugh D; Kim, Jeffrey J; Landstrom, Andrew P

Kurzlechner, Leonie M; Jones, Edward G; Berkman, Amy M; Tadros, Hanna J; Rosenfeld, Jill A; Yang, Yaping; Tunuguntla, Hari; Allen, Hugh D; Kim, Jeffrey J; Landstrom, Andrew P.

Afiliação

Kurzlechner LM; Division of Pediatric Cardiology, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.
Jones EG; Section of Pediatric Cardiology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Berkman AM; Division of Pediatric Cardiology, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.
Tadros HJ; Section of Pediatric Cardiology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Rosenfeld JA; Department of Pediatrics, University of Florida, Gainesville, FL 32611, USA.
Yang Y; Department of Molecular and Human Genetics, Baylor Genetics Laboratories, Baylor College of Medicine, Houston, TX 77030, USA.
Tunuguntla H; Department of Molecular and Human Genetics, Baylor Genetics Laboratories, Baylor College of Medicine, Houston, TX 77030, USA.
Allen HD; Section of Pediatric Cardiology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Kim JJ; Section of Pediatric Cardiology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Landstrom AP; Section of Pediatric Cardiology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.

J Pers Med ; 12(5)2022 Apr 30.

Article em En | MEDLINE | ID: mdl-35629155

Palavras-chave

exome sequencing; genetic testing; hypertrophic cardiomyopathy; incidentally identified variant; mutation hotspot; secondary finding

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: J Pers Med Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Suíça

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