A holistic approach to maximise diagnostic output in trio exome sequencing.

von Hardenberg, Sandra; Wallaschek, Hannah; Du, Chen; Schmidt, Gunnar; Auber, Bernd

von Hardenberg, Sandra; Wallaschek, Hannah; Du, Chen; Schmidt, Gunnar; Auber, Bernd.

Afiliação

von Hardenberg S; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Wallaschek H; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Du C; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Schmidt G; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Auber B; Department of Human Genetics, Hannover Medical School, Hannover, Germany.

Front Pediatr ; 11: 1183891, 2023.

Article em En | MEDLINE | ID: mdl-37274821

Palavras-chave

CNV; GeneMatcher; diagnostic odyssey; re-evaluation; trioWES

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: Front Pediatr Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Alemanha

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