Why check an exome in children with autism and other neurologic illnesses?
This study reports molecular diagnostic yield from chromosomal microarray analysis and whole-exome sequencing performed for a population-based sample of 258 children diagnosed with autism spectrum disorder.
28.6% (95% CI, 3.7%-71.0%) in the equivocal group (2/7 children), and
37.5% (95% CI, 18.8%-59.4%) in the complex group (9/24 children; 3-group comparison, P = .001).
What is the exome?
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