The cancer precision medicine knowledge base for structured clinical-grade mutations and interpretations.

ABSTRACT:

Objective

This paper describes the Precision Medicine Knowledge Base (PMKB; https://pmkb.weill.cornell.edu ), an interactive online application for collaborative editing, maintenance, and sharing of structured clinical-grade cancer mutation interpretations.

Materials and methods

PMKB was built using the Ruby on Rails Web application framework. Leveraging existing standards such as the Human Genome Variation Society variant description format, we implemented a data model that links variants to tumor-specific and tissue-specific interpretations. Key features of PMKB include support for all major variant types, standardized authentication, distinct user roles including high-level approvers, and detailed activity history. A REpresentational State Transfer (REST) application-prog

SUBMITTER: Huang L 

PROVIDER: S-EPMC5391733 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature