Pediatric cancer variant pathogenicity information exchange (PECANPIE)

A cloud-based platform for curating and classifying germline variants

Michael N. Edmonson, Aman N. Patel, Dale J. Hedges, Zhaoming Wang, Evadnie Rampersaud, Chimene A. Kesserwan, Xin Zhou, Yanling Liu, Scott Newman, Michael C. Rusch, Clay L. McLeod, Mark R. Wilkinson, Stephen V. Rice, Thierry Soussi, J. Paul Taylor, Michael G Benatar, Jared B. Becksfort, Kim E. Nichols, Leslie L. Robison, James R. Downing & 1 others Jinghui Zhang

Research output: Contribution to journalArticle

Abstract

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- and cloud-based platform for annotation, identification, and classification of variations in known or putative disease genes. Starting from a set of variants in variant call format (VCF), variants are annotated, ranked by putative pathogenicity, and presented for formal classification using a decision-support interface based on published guidelines from the American College of Medical Genetics and Genomics (ACMG). The system can accept files containing millions of variants and handle single-nucleotide variants (SNVs), simple insertions/deletions (indels), multiple-nucleotide variants (MNVs), and complex substitutions. PeCanPIE has been applied to classify variant pathogenicity in cancer predisposition genes in two large-scale investigations involving >4000 pediatric cancer patients and serves as a repository for the expert-reviewed results. PeCanPIE was originally developed for pediatric cancer but can be easily extended for use for nonpediatric cancers and noncancer genetic diseases. Although PeCanPIE's web-based interface was designed to be accessible to non-bioinformaticians, its back-end pipelines may also be run independently on the cloud, facilitating direct integration and broader adoption. PeCanPIE is publicly available and free for research use.

Original languageEnglish (US)
Pages (from-to)1555-1565
Number of pages11
JournalGenome Research
Volume29
Issue number9
DOIs
StatePublished - Jan 1 2019

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Virulence
Pediatrics
Neoplasms
Nucleotides
Guidelines
High-Throughput Nucleotide Sequencing
Inborn Genetic Diseases
Neoplasm Genes
Genomics
Research
Genes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Edmonson, M. N., Patel, A. N., Hedges, D. J., Wang, Z., Rampersaud, E., Kesserwan, C. A., ... Zhang, J. (2019). Pediatric cancer variant pathogenicity information exchange (PECANPIE): A cloud-based platform for curating and classifying germline variants. Genome Research, 29(9), 1555-1565. https://doi.org/10.1101/gr.250357.119

Pediatric cancer variant pathogenicity information exchange (PECANPIE) : A cloud-based platform for curating and classifying germline variants. / 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; Paul Taylor, J.; Benatar, Michael G; Becksfort, Jared B.; Nichols, Kim E.; Robison, Leslie L.; Downing, James R.; Zhang, Jinghui.

In: Genome Research, Vol. 29, No. 9, 01.01.2019, p. 1555-1565.

Research output: Contribution to journalArticle

Edmonson, MN, Patel, AN, Hedges, DJ, Wang, Z, Rampersaud, E, Kesserwan, CA, Zhou, X, Liu, Y, Newman, S, Rusch, MC, McLeod, CL, Wilkinson, MR, Rice, SV, Soussi, T, Paul Taylor, J, Benatar, MG, Becksfort, JB, Nichols, KE, Robison, LL, Downing, JR & Zhang, J 2019, 'Pediatric cancer variant pathogenicity information exchange (PECANPIE): A cloud-based platform for curating and classifying germline variants', Genome Research, vol. 29, no. 9, pp. 1555-1565. https://doi.org/10.1101/gr.250357.119
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 ; Paul Taylor, J. ; Benatar, Michael G ; Becksfort, Jared B. ; Nichols, Kim E. ; Robison, Leslie L. ; Downing, James R. ; Zhang, Jinghui. / Pediatric cancer variant pathogenicity information exchange (PECANPIE) : A cloud-based platform for curating and classifying germline variants. In: Genome Research. 2019 ; Vol. 29, No. 9. pp. 1555-1565.
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