Journal article

SuperFreq: Integrated mutation detection and clonal tracking in cancer

Christoffer Flensburg, Tobias Sargeant, Alicia Oshlack, Ian Majewski

Published : 2018

Abstract

Abstract Analysing multiple cancer samples from an individual patient can provide insight into the way the disease evolves. Monitoring the expansion and contraction of distinct clones helps to reveal the mutations that initiate the disease and those that drive progression. Existing approaches for clonal tracking from sequencing data typically require the user to combine multiple tools that are not purpose-built for this task. Furthermore, most methods require a matched normal (non-tumour) sample, which limits the scope of application. We developed SuperFreq, a cancer exome sequencing analysis pipeline that integrates identification of somatic single nucleotide variants (SNVs) and copy number..

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