New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.

Hartley, Taila; Lemire, Gabrielle; Kernohan, Kristin D; Howley, Heather E; Adams, David R; Boycott, Kym M

Hartley, Taila; Lemire, Gabrielle; Kernohan, Kristin D; Howley, Heather E; Adams, David R; Boycott, Kym M.

Afiliação

Hartley T; CHEO Research Institute, University of Ottawa, Ottawa, Ontario K1H 8L1, Canada; email: thartley@cheo.on.ca, glemire@cheo.on.ca, kkernohan@cheo.on.ca, hhowley@cheo.on.ca, kboycott@cheo.on.ca.
Lemire G; CHEO Research Institute, University of Ottawa, Ottawa, Ontario K1H 8L1, Canada; email: thartley@cheo.on.ca, glemire@cheo.on.ca, kkernohan@cheo.on.ca, hhowley@cheo.on.ca, kboycott@cheo.on.ca.
Kernohan KD; Department of Genetics, CHEO, Ottawa, Ontario K1H 8L1, Canada.
Howley HE; CHEO Research Institute, University of Ottawa, Ottawa, Ontario K1H 8L1, Canada; email: thartley@cheo.on.ca, glemire@cheo.on.ca, kkernohan@cheo.on.ca, hhowley@cheo.on.ca, kboycott@cheo.on.ca.
Adams DR; Newborn Screening Ontario, CHEO, Ottawa, Ontario K1H 9M8, Canada.
Boycott KM; CHEO Research Institute, University of Ottawa, Ottawa, Ontario K1H 8L1, Canada; email: thartley@cheo.on.ca, glemire@cheo.on.ca, kkernohan@cheo.on.ca, hhowley@cheo.on.ca, kboycott@cheo.on.ca.

Annu Rev Genomics Hum Genet ; 21: 351-372, 2020 08 31.

Article em En | MEDLINE | ID: mdl-32283948

Assuntos

Genoma Humano; Genômica/métodos; Doenças Raras/diagnóstico; Doenças Raras/genética; Humanos

Palavras-chave

data sharing; diagnostic odyssey; genomics; omic approaches; rare disease diagnosis; rare genetic diseases

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genoma Humano / Genômica / Doenças Raras Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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