35. Evolution of a variant curation procedures in the open-access cancer variant interpretation knowledgebase CIViC

Kilannin Krysiak


Kilannin Krysiaka, Arpad Danosa, Jason Salibaa, Susanna Kiwalaa, Adam Coffmana, Joshua McMichaela, Cameron Grisdaleb, Mariam Khanfara, Alex Wagnerc, Malachi Griffitha, Obi Griffitha

aWashington University School of Medicine, St. Louis, MO, United States; bCanada’s Michael Smith Genome Sciences Centre, Vancouver, BC, Canada; cThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Columbus, OH, United States

The open-access, literature-based cancer variant knowledgebase CIViC (Clinical Interpretation of Variants in Cancer), was designed to be an expert-moderated, crowd-sourced variant curation platform. By providing structured and editable data, updates can be made in real time as the field grows and emerging evidence is published. Now supporting abstracts from both the American Society of Hematology (ASH) and the American Society of Clinical Oncology (ASCO), CIViC supports early discoveries that can be updated with more detail when studies are later published. The CIViC community has >330 contributors that have generated >9,500 evidence items from >3,300 sources spanning >480 diseases and >500 therapies. CIViC now supports functional evidence, evidence that specifically pertains to a variant’s impact on protein function (e.g., gain or loss of function). Functional evidence can be used to support Oncogenic (somatic) or Pathogenic (germline) classifications providing evidence codes (e.g., OS2 or PS3, respectively) recorded in CIViC assertions. As new variant interpretation guidelines are released, these codes and classifications can be updated. Significant new features such as Oncogenic Assertions and Molecular Profiles as well as new guidelines have required updates to our curation protocols since our previous publication (Danos et al., 2019 PMID:31779674) which are maintained at docs.civicdb.org. We will discuss lessons learned from our CIViC curation SOP as our data model has changed and how structured data related to emerging guidelines are curated.