RT Journal Article
SR Electronic
T1 Resources For Interpreting Variants In Precision Genomic Oncology Applications
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 144766
DO 10.1101/144766
A1 Hsinyi Tsang
A1 Durga Addepalli
A1 Sean R. Davis
YR 2017
UL http://biorxiv.org/content/early/2017/07/02/144766.abstract
AB Precision genomic oncology–applying high throughput sequencing (HTS) at the point-of-care to inform clinical decisions–is a developing precision medicine paradigm that is seeing increasing adoption. Simultaneously, new developments in targeted agents and immunotherapy, when informed by rich genomic characterization, offer potential benefit to a growing subset of patients. Multiple previous studies have commented on methods for identifying both germline and somatic variants. However, interpreting individual variants remains a significant challenge, relying in large part on the integration of observed variants with biological knowledge. A number of data and software resources have been developed to assist in interpreting observed variants, determining their potential clinical actionability, and augmenting them with ancillary information that can inform clinical decisions and even generate new hypotheses for exploration in the laboratory. Here, we review available variant catalogs, variant and functional annotation software and tools, and databases of clinically actionable variants that can be used in an ad hoc approach with research samples or incorporated into a data platform for interpreting and formally reporting clinical results.