The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing [version 1; referees: 2 approved]

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 suita...

Full description

Bibliographic Details
Main Authors: Shazia Mahamdallie, Elise Ruark, Esty Holt, Emma Poyastro-Pearson, Anthony Renwick, Ann Strydom, Sheila Seal, Nazneen Rahman
Format: Article
Language:English
Published: Wellcome 2018-06-01
Series:Wellcome Open Research
Online Access:https://wellcomeopenresearch.org/articles/3-68/v1