Name
EpiShare: an open platform to securely share epigenomic data
Description

EpiShare is an open science project involving the International Human Epigenome Consortium (IHEC) and ENCODE, developing tools and APIs to increase accessibility of epigenomic data. It does so by using and contributing to standards established by the Global Alliance for Genomics and Health (GA4GH). Here, we present EpiShare’s recent initiatives and latest tools releases. First, we performed an in-depth study of the relevant legislation, ethical standards, and best practice documents to develop the Data Privacy Assessment Tool for Health (D-PATH). D-PATH is a unique tool to ensure that EpiShare’s data sharing activities meet the applicable ethical, legal, professional requirements. While the current version is taking into account the particular needs of EpiShare (physically located in Quebec while processing data from Canadian and international cohorts), D-PATH could be transposed to other data sharing projects, as we plan on expanding it to account for laws and policies from other jurisdictions. We also implemented an open-source clinical and phenotypical metadata service around Phenopackets, offering interoperability between other data exchange formats (FHIR, mCODE). This service promotes usage of existing biomedical ontologies and controlled vocabularies for annotations, and captures experiments metadata and their relationship to phenotypic descriptions. Consequently, we are participating in the GA4GH Clin/Pheno Work Stream to help develop the Phenopackets standard. Additionally, we are involved in the GA4GH REWS, contributing to the development of Data Access Committee Review Standards (DACReS). DACReS will identify areas of best practices for procedural standards to drive consistency and robust reviews for data access requests to genomic, epigenomics and health-related data. EpiShare will also play a leading role in the REWS Standard Genomic Data Licenses and Agreements project. Lastly, EpiShare has participated in the elaboration of the original rnaget API specification, and implemented it within the IHEC Data Portal to retrieve transcriptomic data in proposed data formats.

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