The Efficacy of Whole Genome Sequencing and RNA-Seq in the Diagnosis of Whole Exome Sequencing Negative Patients with Complex Neurological Phenotypes.

Blake, Bianca; Brady, Lauren I; Rouse, Nicholas A; Nagy, Peter; Tarnopolsky, Mark A

Blake, Bianca; Brady, Lauren I; Rouse, Nicholas A; Nagy, Peter; Tarnopolsky, Mark A.

Afiliação

Blake B; Department of Pediatrics, John R. Oishei Children's Hospital, New York, United States.
Brady LI; Department of Pediatrics, McMaster University Medical Centre, Ontario, Canada.
Rouse NA; Praxis Genomics, Atlanta, Georgia, United States.
Nagy P; Praxis Genomics, Atlanta, Georgia, United States.
Tarnopolsky MA; Department of Pediatrics, McMaster University Medical Centre, Ontario, Canada.

J Pediatr Genet ; 12(3): 206-212, 2023 Sep.

Article em En | MEDLINE | ID: mdl-37575640

Palavras-chave

RNA-Seq; genome; transcriptome; whole exome sequencing; whole genome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Observational_studies Idioma: En Revista: J Pediatr Genet Ano de publicação: 2023 Tipo de documento: Article

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