Article
Tumour procurement, DNA extraction, coverage analysis and optimisation of mutation-detection algorithms for human melanoma genomes.
Pathology - 1 Dec 2015
Wilmott James S, Field Matthew A, Johansson Peter A, Kakavand Hojabr, Shang Ping, De Paoli-Iseppi Ricardo, Vilain Ricardo E, Pupo Gulietta M, Tembe Varsha, Jakrot Valerie, Shang Catherine A, Cebon Jonathan, Shackleton Mark, Fitzgerald Anna, Thompson John F, Hayward Nicholas K, Mann Graham J, Scolyer Richard A
Abstract excerpt
Whole genome sequencing (WGS) of cancer patients' tumours offers the most comprehensive method of identifying both novel and known clinically-actionable genomic targets. However, the practicalities of performing WGS on clinical samples are poorly defined.This study was designed to test sample preparation, sequencing specifications and bioinformatic algorithms for their effect on accuracy and cost-efficiency in a...
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