Exome sequencing makes medical genomics a reality
- 1 January 2010
- journal article
- Published by Springer Nature in Nature Genetics
- Vol. 42 (1) , 13-14
- https://doi.org/10.1038/ng0110-13
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.Keywords
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