DITTO4NF

syn49223242

Created By Robert Allaway allawayr

doi: https://www.doi.org/10.7303/syn49223242
event: Hack for NF 2022
summary: Our project DITTO4NF addresses the challenge #2 on devising in silico strategies to prioritize likely pathogenic NF1 germline variants. We have refined and applied our computational algorithm name DITTO to rank the provided list of germline variants from Leiden Open Variation Database. Our method integrates explainable machine learning and computational biology approaches to support variant classification and prioritization providing definitive diagnosis for patients with NF1.
Challenge: Challenge 2
initiative: 2022 Hack for NF
studyStatus: Completed
fundingAgency: CTF
tab1wikipointer: syn49223242/wiki/620186
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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