Article

Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): A Cloud-based Platform for Curating and Classifying Germline Variants

2018-06-06

Abstract excerpt

Variant interpretation in the era of next-generation sequencing (NGS) is challenging. While many resources and guidelines are available to assist with this task, few integrated end-to-end tools exist. Here we present “PeCanPIE” – the Pediatric Cancer Variant Pathogenicity Information Exchange, a web- and cloud-based platform for annotation, identification, and classification of variations in known or putative dise...

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Literature Corpus work: 826c34b3-1777-5e3d-a9dc-676a3476d61f
DOI: 10.1101/340901

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