Ontology highlight
ABSTRACT:
SUBMITTER: Cohn I
PROVIDER: S-EPMC5677914 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
Cohn Iris I Paton Tara A TA Marshall Christian R CR Basran Raveen R Stavropoulos Dimitri J DJ Ray Peter N PN Monfared Nasim N Hayeems Robin Z RZ Meyn M Stephen MS Bowdin Sarah S Scherer Stephen W SW Cohn Ronald D RD Ito Shinya S
NPJ genomic medicine 20170526
Whole-genome sequencing and whole-exome sequencing have proven valuable for diagnosing inherited diseases, particularly in children. However, usage of sequencing data as a pharmacogenetic screening tool to ensure medication safety and effectiveness remains to be explored. Sixty-seven variants in 19 genes with known effects on drug response were compared between genome sequencing and targeted genotyping data for coverage and concordance in 98 pediatric patients. We used targeted genotyping data a ...[more]