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

Exome sequencing makes medical genomics a reality

Leslie G Biesecker
Comment

Exome sequencing makes medical genomics a reality

Leslie G Biesecker. Nat Genet. 2010 Jan.

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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Comment on

  • Exome sequencing identifies the cause of a mendelian disorder.
    Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. Ng SB, et al. Nat Genet. 2010 Jan;42(1):30-5. doi: 10.1038/ng.499. Epub 2009 Nov 13. Nat Genet. 2010. PMID: 19915526 Free PMC article.

References

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    1. Nature. 2009 Sep 10;461(7261):272-6 - PubMed
    1. Nat Genet. 2010 Jan;42(1):30-5 - PubMed
    1. Nat Genet. 1995 Apr;9(4):347-50 - PubMed

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