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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Publicat a:Genome Res
Autors principals: 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
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 2019
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Resource
Accés en línia: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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