Findings from precision oncology in the clinic: rare, novel variants are a significant contributor to scaling molecular diagnostics.
Kenneth D DoigChristopher G LoveThomas ConwayAndrei SeleznevDavid MaAndrew FellowesPiers BlomberyStephen B FoxPublished in: BMC medical genomics (2022)
This analysis highlights the significant percentage of variants not present within common public variant resources and the level of non-recurrent variants that consequently require greater curation effort. Many of these variants are unique to a single patient and unlikely to appear in other patients reflecting the personalised nature of cancer genomics. This study depicts the real-world situation for pathology laboratories faced with curating increasing numbers of low-recurrence variants while needing to expedite the process of manual variant curation. In the absence of suitably accurate automated methods, new approaches are needed to scale oncology diagnostics for future genetic testing volumes.
Keyphrases
- copy number
- palliative care
- healthcare
- ejection fraction
- high resolution
- deep learning
- machine learning
- dna methylation
- mental health
- emergency department
- papillary thyroid
- gene expression
- squamous cell carcinoma
- case report
- mass spectrometry
- genome wide
- young adults
- current status
- single molecule
- patient reported outcomes
- free survival
- peritoneal dialysis