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Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders

As the ability to identify the contribution of genetic background to human disease continues to advance, there is no discipline of medicine in which this may have a larger impact than in the care of the ill neonate. Newborns with congenital malformations, syndromic conditions, and inherited disorder...

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Détails bibliographiques
Publié dans:Cold Spring Harb Perspect Med
Auteurs principaux: Smith, Laurie D., Willig, Laurel K., Kingsmore, Stephen F.
Format: Artigo
Langue:Inglês
Publié: Cold Spring Harbor Laboratory Press 2016
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4743073/
https://ncbi.nlm.nih.gov/pubmed/26684335
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/cshperspect.a023168
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