Article
Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants.
Genome research - 1 Sept 2019
Edmonson Michael N, Patel Aman N, Hedges Dale J, Wang Zhaoming, Rampersaud Evadnie, Kesserwan Chimene A, Zhou Xin, Liu Yanling, Newman Scott, Rusch Michael C, McLeod Clay L, Wilkinson Mark R, Rice Stephen V, Soussi Thierry, Taylor J Paul, Benatar Michael, Becksfort Jared B, Nichols Kim E, Robison Leslie L, Downing James R, Zhang Jinghui
Abstract excerpt
Variant interpretation in the era of massively parallel sequencing is challenging. Although many resources and guidelines are available to assist with this task, few integrated end-to-end tools exist. Here, we present the Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE), a web- and cloud-based platform for annotation, identification, and classification of variations in known or putative...
Read the complete abstract on PubMedTopics
- Child
- Cloud Computing
- Computational Biology
- Databases, Genetic