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. © 2010 Nature America, Inc. All rights reserved.
CITATION STYLE
Biesecker, L. G. (2010, January). Exome sequencing makes medical genomics a reality. Nature Genetics. https://doi.org/10.1038/ng0110-13
Mendeley helps you to discover research relevant for your work.