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Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders

New sequencing methods capable of rapidly analyzing the genome at increasing resolution have transformed diagnosis of single-gene or oligogenic genetic disorders in pediatric and adult medicine. Targeted tests, consisting of disease-focused multigene panels and diagnostic exome sequencing to interro...

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Foilsithe in:Cold Spring Harb Perspect Med
Main Authors: Van den Veyver, Ignatia B., Eng, Christine M.
Formáid: Artigo
Teanga:Inglês
Foilsithe: Cold Spring Harbor Laboratory Press 2015
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4588135/
https://ncbi.nlm.nih.gov/pubmed/26253094
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/cshperspect.a023077
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