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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Resource
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6724669/
https://www.ncbi.nlm.nih.gov/pubmed/31439692
http://dx.doi.org/10.1101/gr.250357.119

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