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Article

Accuracy and reproducibility of somatic point mutation calling in clinical-type targeted sequencing data.

BMC medical genomics - 15 Oct 2020

Karimnezhad Ali, Palidwor Gareth A, Thavorn Kednapa, Stewart David J, Campbell Pearl A, Lo Bryan, Perkins Theodore J

Abstract excerpt

BACKGROUND: Treating cancer depends in part on identifying the mutations driving each patient's disease. Many clinical laboratories are adopting high-throughput sequencing for assaying patients' tumours, applying targeted panels to formalin-fixed paraffin-embedded tumour tissues to detect clinically-relevant mutations. While there have been some benchmarking and best practices studies of this scenario, much...

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Identifiers

PMID: 33059707
DOI: 10.1186/s12920-020-00803-z
PMCID: PMC7560075

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