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...

Descripción completa

Detalles Bibliográficos
Autores principales: Hu, Xuyun, Guo, Ruolan, Guo, Jun, Qi, Zhan, Li, Wei, Hao, Chanjuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7300249/
https://www.ncbi.nlm.nih.gov/pubmed/32595695
http://dx.doi.org/10.3389/fgene.2020.00473

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7300249/
https://www.ncbi.nlm.nih.gov/pubmed/32595695
http://dx.doi.org/10.3389/fgene.2020.00473

Ejemplares similares