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

Abstract 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 cl...

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Autori principali:	Ali Karimnezhad, Gareth A. Palidwor, Kednapa Thavorn, David J. Stewart, Pearl A. Campbell, Bryan Lo, Theodore J. Perkins
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMC 2020-10-01
Serie:	BMC Medical Genomics
Soggetti:	Cancer genomics Clinical genomics Variant calling Single nucleotide variants High-throughput sequencing Somatic point mutations
Accesso online:	http://link.springer.com/article/10.1186/s12920-020-00803-z
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