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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2019
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Acesso em linha: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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