Article
tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine.
BMC bioinformatics - 10 Jun 2016
Gillies Christopher E, Otto Edgar A, Vega-Warner Virginia, Robertson Catherine C, Sanna-Cherchi Simone, Gharavi Ali, Crawford Brendan, Bhimma Rajendra, Winkler Cheryl, Kang Hyun Min, Sampson Matthew G
Abstract excerpt
BACKGROUND: Targeted sequencing of discrete gene sets is a cost effective strategy to screen subjects for monogenic forms of disease. One method to achieve this pairs microfluidic PCR with next generation sequencing. The PCR step of this pipeline creates challenges in accurate variant calling. This includes that most reads targeting a specific exon are duplicates that have been amplified from the PCR step. To...
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