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

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...

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Detalles Bibliográficos
Publicado en:Wellcome Open Res
Autores principales: Mahamdallie, Shazia, Ruark, Elise, Holt, Esty, Poyastro-Pearson, Emma, Renwick, Anthony, Strydom, Ann, Seal, Sheila, Rahman, Nazneen
Formato: Artigo
Lenguaje:Inglês
Publicado: F1000 Research Limited 2018
Materias:
Data Note
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6081973/
https://ncbi.nlm.nih.gov/pubmed/30175241
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/wellcomeopenres.14594.1
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