RT Journal Article
SR Electronic
T1 Cpipe: a shared variant detection pipeline designed for diagnostic settings
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 020388
DO 10.1101/020388
A1 Simon P Sadedin
A1 Harriet Dashnow
A1 Paul A James
A1 Melanie Bahlo
A1 Denis C Bauer
A1 Andrew Lonie
A1 Sebastian Lunke
A1 Ivan Macciocca
A1 Jason P Ross
A1 Kirby R Siemering
A1 Zornitza Stark
A1 Susan M White
A1 Melbourne Genomics Health Alliance
A1 Graham Taylor
A1 Clara Gaff
A1 Alicia Oshlack
A1 Natalie P Thorne
YR 2015
UL http://biorxiv.org/content/early/2015/06/03/020388.abstract
AB 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.HIPAAHealth Insurance Portability and Accountability Act1000G1000 Genomes Project [http://1000genomes.org]ExACExome Aggregation Consortium [http://exac.broadinstitute.org]LOVDLeiden Open Variation Database