Exome Sequencing Deciphers Rare Diseases
نویسنده
چکیده
Two 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.
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ورودعنوان ژورنال:
- Cell
دوره 144 شماره
صفحات -
تاریخ انتشار 2011