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Chunk #10 — Discussion

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Exome sequencing identifies the cause of a mendelian disorder.
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of heterogeneity, it is possible to relax stringency by allowing for genes common to subsets of all affected individuals to be considered candidates, although this will reduce power (Table 3). Third, all of the individuals with Miller syndrome for whom exomes were sequenced were of European ancestry. Sequencing exomes of affected individuals sampled from populations with a different geographical ancestry who have a higher number of novel and/or rare variants (e.g., sub-Saharan African, East Asian) will make the identification of candidate genes more difficult. This will become less of an issue as databases of human polymorphisms become increasingly comprehensive.