Clinical exome sequencing-Mistakes and caveats.

Corominas, Jordi; Smeekens, Sanne P; Nelen, Marcel R; Yntema, Helger G; Kamsteeg, Erik-Jan; Pfundt, Rolph; Gilissen, Christian

Corominas, Jordi; Smeekens, Sanne P; Nelen, Marcel R; Yntema, Helger G; Kamsteeg, Erik-Jan; Pfundt, Rolph; Gilissen, Christian.

Afiliação

Corominas J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Smeekens SP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Nelen MR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Kamsteeg EJ; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Gilissen C; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.

Hum Mutat ; 43(8): 1041-1055, 2022 08.

Article em En | MEDLINE | ID: mdl-35191116

Assuntos

Exoma; Sequenciamento de Nucleotídeos em Larga Escala; Exoma/genética; Testes Genéticos; Sequenciamento de Nucleotídeos em Larga Escala/métodos; Humanos; Análise de Sequência de DNA/métodos; Sequenciamento do Exoma

Palavras-chave

NGS data analysis; clinical exome; clinical variant interpretation; genetic diagnostics; next generation sequencing; whole exome sequencing

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sequenciamento de Nucleotídeos em Larga Escala / Exoma Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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