Nature Reviews Genetics 16, 377 (2015)
Genetic testing: Clinical whole-genome sequencing
Orli G. Bahcall.
Taylor et al. consider the utility of whole-genome sequencing for diagnosis of genetic disorders in routine clinical practice as part of the WGS500 project to sequence the whole genomes of 500 patients. The authors examine whole-genome sequencing data from 217 individuals (including 156 independent