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

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

Abstract 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...

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Bibliographic Details
Main Authors: Jun Wang, Yan Wang, Liwen Wang, Wang Yang Chen, Min Sheng
Format: Article
Language:English
Published: BMC 2020-05-01
Series:BMC Medical Genomics
Subjects:
Intellectual disability
Copy number variation
Single-nucleotide variations
Detection rate
Whole genome low-coverage sequencing
Medical exome sequencing
Online Access:http://link.springer.com/article/10.1186/s12920-020-0726-x

Internet

http://link.springer.com/article/10.1186/s12920-020-0726-x

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