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

To identify an appropriate clinical detection scheme for ID in Han Chinese patients, whole genome low-coverage sequencing was performed as the first-tier diagnostic test, and medical exome sequencing (MES) as the second-tier diagnostic test for patients with negative results of CNVs.

Results

A total of 19 pathogenic CNVs in 16/95(16.84%) ID patients and 10 pathogenic single-nucleotide variations (SNVs), including 6 novel mutations in 8/95(8.42%) ID patients were identified on whom n

SUBMITTER: Wang J 

PROVIDER: S-EPMC7236547 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature