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-...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Genome Res
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Cold Spring Harbor Laboratory Press 2019
Pynciau:
Resource
Mynediad Ar-lein: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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