Next-generation sequencing and the evolution of data sharing.
Am J Med Genet A
; 185(9): 2633-2635, 2021 09.
Article
em En
| MEDLINE
| ID: mdl-33960641
Disease gene identification often relies on identifying multiple affected individuals with similar phenotypes and candidate variants in the same gene. Phenotypic and genomic data sharing tools have facilitated connections that led to novel disease gene discoveries and better characterization and recognition of rare diseases. Additionally, data sharing has evolved. From gene-based matches to variant-level information with increasing use of phenotypic information. We expect that these initiatives will continue to expand in the future affording clinicians, researchers, and most importantly, patients and their families faster and more comprehensive answers.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
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Evolução Molecular
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Biologia Computacional
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Predisposição Genética para Doença
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Disseminação de Informação
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Sequenciamento de Nucleotídeos em Larga Escala
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Doenças Genéticas Inatas
Limite:
Humans
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article