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Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes

The advent and refinement of sequencing technologies has resulted in a decrease in both the cost and time needed to generate data on the entire sequence of the human genome. This has increased the accessibility of using whole-genome sequencing and whole-exome sequencing approaches for analysis in bo...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Howard, Heidi Carmen, Knoppers, Bartha Maria, Cornel, Martina C, Wright Clayton, Ellen, Sénécal, Karine, Borry, Pascal
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795188/
https://ncbi.nlm.nih.gov/pubmed/25626707
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.289
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