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

2018-06-12

Abstract excerpt

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 o...

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Literature Corpus work
a40b5400-433a-5658-937a-21802d31e766
DOI
10.12688/wellcomeopenres.14594.1
Open publication

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The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testingDOI 10.12688/wellcomeopenres.14594.1
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