Bioinformatics for ChiLDReN Genomics

May 2021 Council

Lead Division/Office


Point(s) of Contact

Edward Doo, M.D.; Averell H. Sherker, M.D., FRCPC

Executive Summary

The ChiLDReN Network has undertaken a comprehensive genomics effort across the various rare cholestatic liver diseases currently under study. As of February 2021, a total of 2581 whole exome sequences have been completed with an additional 6401 samples remaining to be sequenced. The sequencing effort has been supported via a series of intermittent modest supplements to the Network and the sequencing work is anticipated to be completed by 2022. This initiative request is for the establishment of a Network Bioinformatics Center that would perform complex analysis of the large volume genomic sequence data that will be generated. This initiative is timed to commence and dovetail with the conclusion of the sequencing efforts.