The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
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DOI: 10.1186/s12920-020-0726-x
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… read more here.
Keywords: low coverage; whole genome; diagnostic test; coverage sequencing ... See more keywords