The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing

BACKGROUND: Intellectual disability (ID) is a heterogeneous neurodevelopmental disorder with a complex genetic underpinning in its etiology. Chromosome microarray (CMA) is recommended as the first-tier diagnostic test for ID due to high detection rate of copy number variation (CNV). METHODS: To iden...

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Detalles Bibliográficos
Autores principales: Wang, Jun, Wang, Yan, Wang, Liwen, Chen, Wang Yang, Sheng, Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7236547/
https://www.ncbi.nlm.nih.gov/pubmed/32429945
http://dx.doi.org/10.1186/s12920-020-0726-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7236547/
https://www.ncbi.nlm.nih.gov/pubmed/32429945
http://dx.doi.org/10.1186/s12920-020-0726-x

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