Exome sequencing deciphers rare diseases.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 21376225.
- Also identified by DOI 10.1016/j.cell.2011.02.033.
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Abstract
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.
Medical subject headings
- Exons
- Genome, Human
- Molecular Diagnostic Techniques
- Rare Diseases
- Sequence Analysis, DNA