Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN [version 1; referees: 2 approved]
Background: Targeted next generation sequencing (NGS) panels are increasingly being used in clinical genomics to increase capacity, throughput and affordability of gene testing. Identifying whole exon deletions or duplications (termed exon copy number variants, ‘exon CNVs’) in exon-targeted NGS pane...
Main Authors: | Anna Fowler, Shazia Mahamdallie, Elise Ruark, Sheila Seal, Emma Ramsay, Matthew Clarke, Imran Uddin, Harriet Wylie, Ann Strydom, Gerton Lunter, Nazneen Rahman |
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Format: | Article |
Language: | English |
Published: |
Wellcome
2016-11-01
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Series: | Wellcome Open Research |
Subjects: | |
Online Access: | https://wellcomeopenresearch.org/articles/1-20/v1 |
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