The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing.

ABSTRACT: The analytical sensitivity of a next generation sequencing (NGS) test reflects the ability of the test to detect real sequence variation. The evaluation of analytical sensitivity relies on the availability of gold-standard, validated, benchmarking datasets. For NGS analysis the availability of suitable datasets has been limited. Most laboratories undertake small scale evaluations using in-house data, and/or rely on in silico generated datasets to evaluate the performance of NGS variant detection pipelines. Cancer predisposition genes (CPGs), such as BRCA1 and BRCA2, are amongst the most widely tested genes in clinical practice today. Hundreds of providers across the world are now offering CPG testing using NGS methods. Validating and comparing the analytical sensitivit

SUBMITTER: Mahamdallie S 

PROVIDER: S-EPMC6081973 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature