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Exome sequencing makes medical genomics a reality

Nature Genetics volume 42, pages 13–14 (2010)Cite this article

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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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Figure 1: Exome sequencing and filtering strategy.

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  1. Leslie G. Biesecker is at the National Human Genome Research Institute, Bethesda, Maryland, USA.,

    Leslie G Biesecker

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  1. Leslie G Biesecker
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Correspondence to Leslie G Biesecker.

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Biesecker, L. Exome sequencing makes medical genomics a reality. Nat Genet 42, 13–14 (2010). https://doi.org/10.1038/ng0110-13

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