… However, evidence of clinical utility is limited to pediatric populations; we aimed to fill this …
on the clinical utility of exome/genome sequencing across disease indications in pediatric and …

… genetic testing in adults is at present typically done for a few patients who, as a result of
family history or clinical indications, are considered at risk of carrying genetic variations that are …

… Large deletions of 1,500 bp or more were also called from the mitochondrial genome
sequencing data by evaluating coverage using custom Perl scripts and the R DNAcopy package. …

… of DNA sequencing have made the possibility of whole genome sequencing (WGS) as a
highly accessible clinical test for numerous indications feasible. There have been many recent, …

… same gene sequence or locus and are nonallelic if they arise from different gene sequences
… important genetic findings unrelated to the primary indication for sequencing. Whole-exome …

… guidelines will be needed to determine what clinical indications can and should be covered.
… The application of genomic sequencing to large numbers of individuals has the potential to …

… , clinical indications, family structures, and variant types analyzed 12 . In contrast, studies
comparing yields within the same cohort support diagnostic or analytical superiority of WGS 2,6,…

… The Working Group has designed these recommendations for the situation in which a clinician
orders exome or genome sequencing for a specific clinical indication. In this circumstance…

… clinical utility (Box 1). While the suggested approach can be applied to a range of genomic
technologies and indications … dimension of utility to include specific indicators, examples, and …

… sequencing (GS). GS is quickly becoming a practical first-tier test, as cost decreases and …
clinical indications and complex presentations. In this paper, we discuss clinical indications for …