tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine

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...

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Bibliographic Details
Published in:BMC Bioinformatics
Main Authors: 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.
Format: Artigo
Language:Inglês
Published: BioMed Central 2016
Subjects:
Methodology Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4902911/
https://ncbi.nlm.nih.gov/pubmed/27287006
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-016-1108-4
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