Findings from precision oncology in the clinic: rare, novel variants are a significant contributor to scaling molecular diagnostics

• Main Authors: Kenneth D. Doig (Author), Christopher G. Love (Author), Thomas Conway (Author), Andrei Seleznev (Author), David Ma (Author), Andrew Fellowes (Author), Piers Blombery (Author), Stephen B. Fox (Author)
• Format: Book
• Published: BMC, 2022-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Next generation sequencing for oncology patient management is now routine in clinical pathology laboratories. Although wet lab, sequencing and pipeline tasks are largely automated, the analysis of variants for clinical reporting remains largely a manual task. The increasing volum...