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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Methodology Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4902911/
https://www.ncbi.nlm.nih.gov/pubmed/27287006
http://dx.doi.org/10.1186/s12859-016-1108-4

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