Long-read sequencing for molecular diagnostics in constitutional genetic disorders.

Conlin, Laura K; Aref-Eshghi, Erfan; McEldrew, Deborah A; Luo, Minjie; Rajagopalan, Ramakrishnan

Conlin, Laura K; Aref-Eshghi, Erfan; McEldrew, Deborah A; Luo, Minjie; Rajagopalan, Ramakrishnan.

Afiliação

Conlin LK; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Aref-Eshghi E; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
McEldrew DA; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Luo M; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Rajagopalan R; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Hum Mutat ; 43(11): 1531-1544, 2022 11.

Article em En | MEDLINE | ID: mdl-36086952

Assuntos

Sequenciamento de Nucleotídeos em Larga Escala; Patologia Molecular; Humanos; Análise de Sequência de DNA

Palavras-chave

Oxford Nanopore; PacBio; constitutional disorders; long-read sequencing; molecular diagnostics

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Patologia Molecular / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Diagnostic_studies / Guideline / Observational_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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