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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Bibliografiske detaljer
Udgivet i:Genome Res
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: Cold Spring Harbor Laboratory Press 2019
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Online adgang: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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