Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders

Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders

Background: Both whole exome sequencing and copy number variants sequencing were applied to identify the genetic cause of rare pediatric disorders. In our study, we aimed to investigate the diagnostic yield of parallel tests of trio whole exome sequencing and copy number variants sequencing and its...

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Bibliographic Details
Main Authors:	Xuyun Hu, Ruolan Guo, Jun Guo, Zhan Qi, Wei Li, Chanjuan Hao
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2020-06-01
Series:	Frontiers in Genetics
Subjects:	whole exome sequencing copy number variants sequencing pediatric disorders cost-effective clinical utility
Online Access:	https://www.frontiersin.org/article/10.3389/fgene.2020.00473/full

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