Clinical interpretation of variants remains a major bottleneck for translation of genomic observations. Recognizing this need, a number of variant knowledgebases have emerged to organize efforts to synthesize complex evidence about variants and their clinical relevance. These resources differ widely in their curation approach, data sharing model, adoption of standards, overall scope and target applications. Many of these efforts remain siloed from each other. Consensus on the correct interpretation of individual variants remains elusive. To the extent that any "final" assertions emerge, their stability and reliability is largely unknown, leaving the burden of extensive vetting on the end user. In this session, the current state of the art for clinical variant knowledgebase systems and ongoing efforts to improve curation interfaces, practices, and interoperability will be discussed. Existing options such as CIViC (civicdb.org) will be used to stimulate discussion on the current state of the field, major outstanding challenges, and future directions.
Malachi Griffith, PhD, Washington University School of Medicine, St. Louis, MO, US
Objectives:
- Upon completion, participants will be able to define the concept of a knowledgebase.
- Upon completion, participants will be able to understand the informatics aspects of developing a knowledgebase.
- Upon completion, participants will understand the strengths and limitations of the CIViC knowledgebase and its approach to curating cancer variant interpretations from the literature.
Duration: 1.00 hr
Recording Date: November 8, 2019
CME/CMLE credit: 1.00 hr
Last day to purchase course and CE claim credit: December 24, 2022
