Article
Somatic point mutation calling in low cellularity tumors.
PloS one - 1 Jan 2013
Kassahn Karin S, Holmes Oliver, Nones Katia, Patch Ann-Marie, Miller David K, Christ Angelika N, Harliwong Ivon, Bruxner Timothy J, Xu Qinying, Anderson Matthew, Wood Scott, Leonard Conrad, Taylor Darrin, Newell Felicity, Song Sarah, Idrisoglu Senel, Nourse Craig, Nourbakhsh Ehsan, Manning Suzanne, Wani Shivangi, Steptoe Anita, Pajic Marina, Cowley Mark J, Pinese Mark, Chang David K, Gill Anthony J, Johns Amber L, Wu Jianmin, Wilson Peter J, Fink Lynn, Biankin Andrew V, Waddell Nicola, Grimmond Sean M, Pearson John V
Abstract excerpt
Somatic mutation calling from next-generation sequencing data remains a challenge due to the difficulties of distinguishing true somatic events from artifacts arising from PCR, sequencing errors or mis-mapping. Tumor cellularity or purity, sub-clonality and copy number changes also confound the identification of true somatic events against a background of germline variants. We have developed a heuristic strategy...
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