If pt likely to have a single gene defect but normal CMA and no abnormality seen on sequencing likely genes, can do whole exome sequencing.
Includes all exons, ultraconserved regions, regulatory regions, ncRNAs, enhancers, splice donor + acceptor regions.
Will show ALL abnormalities, including normal variants (normally 30,000 per exome):
- filter out common variants and variants unlikely to have an effect
- select only the variants in relevant disease genes
- look at parental genotypes/phenotypes and select variants with relevant inheritance (e.g. de novo, recessive)
- try and work out which gene is the cause- clinical input required
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