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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Autors principals:	Xuyun Hu, Ruolan Guo, Jun Guo, Zhan Qi, Wei Li, Chanjuan Hao
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2020-06-01
Col·lecció:	Frontiers in Genetics
Matèries:	whole exome sequencing copy number variants sequencing pediatric disorders cost-effective clinical utility
Accés en línia:	https://www.frontiersin.org/article/10.3389/fgene.2020.00473/full
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