Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants

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-...

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Pubblicato in:Genome Res
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Cold Spring Harbor Laboratory Press 2019
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6724669/
https://ncbi.nlm.nih.gov/pubmed/31439692
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.250357.119
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