Reliably Detecting Clinically Important Variants Requires Both Combined Variant Calls and Optimized Filtering Strategies

A diversity of tools is available for identification of variants from genome sequence data. Given the current complexity of incorporating external software into a genome analysis infrastructure, a tendency exists to rely on the results from a single tool alone. The quality of the output variant call...

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Detalles Bibliográficos
Autores principales: Field, Matthew A., Cho, Vicky, Andrews, T. Daniel, Goodnow, Chris C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4658170/
https://www.ncbi.nlm.nih.gov/pubmed/26600436
http://dx.doi.org/10.1371/journal.pone.0143199

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4658170/
https://www.ncbi.nlm.nih.gov/pubmed/26600436
http://dx.doi.org/10.1371/journal.pone.0143199

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