Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants.
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DOI: 10.1101/gr.250357.119
Abstract: 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… read more here.
Keywords: pecanpie; pediatric cancer; variant pathogenicity; cancer variant ... See more keywords