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Nat Genet. 2010 Jan;42(1):13-4. doi: 10.1038/ng0110-13.

Exome sequencing makes medical genomics a reality.

Abstract

Massively parallel sequencing of the exomes of four individuals with Miller syndrome, combined with filtering to exclude benign and unrelated variants, has identified causative mutations in DHODH. This approach will accelerate discovery of the genetic bases of hundreds of other rare mendelian disorders.

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PMID:
20037612
[PubMed - indexed for MEDLINE]
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