Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting

Published 2017 View Full Article

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Title
Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting
Authors
Keywords
Exome sequencing, Targeted sequencing, DNA copy number variations, CNVs, Single nucleotide variants, SNVs, Chromosomal imbalances
Journal
European Journal of Medical Genetics
Volume 60, Issue 12, Pages 667-674
Publisher
Elsevier BV
Online
2017-09-05
DOI
10.1016/j.ejmg.2017.08.020

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