Cpipe: A shared variant detection pipeline designed for diagnostic settings

62Citations
Citations of this article
83Readers
Mendeley users who have this article in their library.

This article is free to access.

Abstract

The benefits of implementing high throughput sequencing in the clinic are quickly becoming apparent. However, few freely available bioinformatics pipelines have been built from the ground up with clinical genomics in mind. Here we present Cpipe, a pipeline designed specifically for clinical genetic disease diagnostics. Cpipe was developed by the Melbourne Genomics Health Alliance, an Australian initiative to promote common approaches to genomics across healthcare institutions. As such, Cpipe has been designed to provide fast, effective and reproducible analysis, while also being highly flexible and customisable to meet the individual needs of diverse clinical settings. Cpipe is being shared with the clinical sequencing community as an open source project and is available at http://cpipeline.org.

Cite

CITATION STYLE

APA

Sadedin, S. P., Dashnow, H., James, P. A., Bahlo, M., Bauer, D. C., Lonie, A., … Thorne, N. P. (2015). Cpipe: A shared variant detection pipeline designed for diagnostic settings. Genome Medicine, 7(1). https://doi.org/10.1186/s13073-015-0191-x

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free