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

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...
Source: BMC Medical Genomics - Category: Genetics & Stem Cells Authors: Tags: Research article Source Type: research