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Chunk #11 — Discussion

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Exome sequencing identifies the cause of a mendelian disorder.
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Additional factors could facilitate the future application of this strategy. Mapping information, such as blocks of homozygosity, could focus the search to a smaller pool of candidates. The number of candidate variants can also be reduced further by comparison between variants in a case to those found in each parent. For autosomal dominant disorders, this strategy can discover de novo coding variants as neither parent is predicted to have a mutation that causes a fully penetrant dominant disorder, whereas for recessive disorders, parents are predicted to be carriers of the disease-causing variants.