• Cell · Mar 2011

    Exome sequencing deciphers rare diseases.

    • Amy Maxmen.
    • Cell. 2011 Mar 4;144(5):635-7.

    AbstractTwo years ago, NIH's Undiagnosed Diseases Program began delivering genomics to the clinic on an unprecedented scale. Now, with 128 exomes sequenced and 39 rare diseases diagnosed, the program's success is paving the way for widespread personal genomics while pioneering new techniques for reigning in the "tsunami" of genomics data.Copyright © 2011 Elsevier Inc. All rights reserved.

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