PathOS: a decision support system for reporting high throughput sequencing of cancers in clinical diagnostic laboratories

PathOS: a decision support system for reporting high throughput sequencing of cancers in clinical diagnostic laboratories

Abstract Background The increasing affordability of DNA sequencing has allowed it to be widely deployed in pathology laboratories. However, this has exposed many issues with the analysis and reporting of variants for clinical diagnostic use. Implementing a high-throughput sequencing (NGS) clinical r...

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Bibliographic Details
Main Authors: Kenneth D. Doig, Andrew Fellowes, Anthony H. Bell, Andrei Seleznev, David Ma, Jason Ellul, Jason Li, Maria A. Doyle, Ella R. Thompson, Amit Kumar, Luis Lara, Ravikiran Vedururu, Gareth Reid, Thomas Conway, Anthony T. Papenfuss, Stephen B. Fox
Format: Article
Language:English
Published: BMC 2017-04-01
Series:Genome Medicine
Subjects:
Somatic Variant
Bioinformatics Pipeline
Issue Tracking System
Molecular Pathology Laboratory
Capture Panel
Online Access:http://link.springer.com/article/10.1186/s13073-017-0427-z

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