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Reimagining genome browsing for the era of single cell genomics

232SCG
  • Project Leaders: Sohrab Shah, Cydney Nielsen
  • Institutions: University of British Columbia (UBC)
  • Budget: $250000
  • Competition: 2015 Disruptive Innovation in Genomics - Phase 1
  • Genome Centre(s): Genome Canada
  • Fiscal Year: 2016
  • Status: Closed

Human tumours develop through the accumulation of mutations in their DNA. Individual cells within a tumour can acquire different mutations, which may respond differently to therapy or acquire different abilities to invade and spread. Genetic diversity within tumours is rarely considered in treatment protocols, yet it contributes to drug resistance, spread and disease progression.

Recent breakthroughs in DNA sequencing technology have enabled researchers to precisely decode the genomes of individual tumour cells. Translating single-cell sequencing data into improved understanding of tumour evolution and clinically actionable insights requires both automated computational methods for data analysis and software systems that enable researchers to "see" the data. Although the computational methods are under active development, there is an ongoing need for tools that can effectively visualize the millions of genomes that exist in a single tumour.

Dr. Sohrab Shah is leading a team to address this challenge by developing a technology platform for advanced interpretation of single cell whole genome sequencing data from cancers. This interactive platform has accelerated the research into the evolutionary history of tumors in ways not possible with static tools, and this foundational work is critical to build a full-featured software prototype. Since a public facing website (http://cellmine.org/) was released for broad use by the scientific community in 2017, there has been significant interest generated with thousands of downloads to key components in the browser-based visualization. This research continues in Dr. Shah’s current lab at Memorial Sloan Kettering Cancer Centre in New York.