Open AccessExome Sequencing Deciphers Rare Diseases
Author(s) -
Amy Maxmen
Publication year - 2011
Publication title -
cell
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 26.304
H-Index - 776
eISSN - 1097-4172
pISSN - 0092-8674
DOI - 10.1016/j.cell.2011.02.033
Subject(s) - biology , exome sequencing , exome , genetics , computational biology , dna sequencing , mutation , bioinformatics , dna , gene
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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