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 diatric cer Variant athogenicity nformation xchange (PeCanPIE), a web- and clo...

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Vydané v:	Genome research Ročník 29; číslo 9; s. 1555
Hlavní autori:	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
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	United States 01.09.2019
Predmet:	Child Cloud Computing Computational Biology - methods Databases, Genetic Genetic Predisposition to Disease Germ-Line Mutation High-Throughput Nucleotide Sequencing Humans Neoplasms - genetics User-Computer Interface
ISSN:	1549-5469, 1549-5469
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