Predicting pathogenicity of NF1 mutations

syn49223376

Created By Robert Allaway allawayr

doi: https://doi.org/10.7303/syn49223376
event: Hack for NF 2022
summary: In this project we address predicting how likely germline mutations in the NF1 gene are to cause disease. We specifically address missense mutations, i.e. mutations that are predicted to change a single amino acid in the NF1 protein sequence.
Challenge: Challenge 2
initiative: 2022 Hack for NF
studyStatus: Completed
fundingAgency: CTF
tab1wikipointer: syn49223376/wiki/620201
acknowledgementStatements: If you use data/concepts from this hackathon project in a publication or talk, please acknowledge the authors of this hackathon project. In addition, please acknowledge the Children's Tumor Foundation and NF Data Portal using the following statement: "The results published here are in whole or in part based on data/concepts made available through the NF Open Science Initiative and CTF Hack for NF 2022."

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