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Genetic Counseling and Genome Sequencing in Pediatric Rare Disease

Both genome sequencing (GS) and exome sequencing (ES) have proven to be revolutionary in the diagnosis of pediatric rare disease. The diagnostic potential and increasing affordability make GS and ES more accessible as a routine clinical test in some centers. Herein, I review aspects of rare disease...

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Detalhes bibliográficos
Publicado no:Cold Spring Harb Perspect Med
Autor principal: Elliott, Alison M.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7050583/
https://ncbi.nlm.nih.gov/pubmed/31501267
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/cshperspect.a036632
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