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sector_ico_Health_trans Human Health

New bioinformatics for new sequencing technologies: Genome characterization and variation detection using long reads

  • Project Leaders: Inanc Birol
  • Institutions: BC Cancer (Previously BC Cancer Agency (BCCA))
  • Budget: $250000
  • Program/Competition: Bioinformatics and Computational Biology Competitions
  • Genome Centre(s): Genome Canada
  • Fiscal Year: 2016
  • Status: Closed

Over the last decade, technology advances have made DNA sequencing a routine and cost- effective method in many fields of life sciences research.  The dominant technology today generates millions of short sequences, consisting of 75-150 bases (the “letters” that make up the DNA sequence).  However recently emerging DNA sequencing technologies generate much longer sequencing reads that are “noisier” hence more difficult to read without large amounts of computer infrastructure that few research labs have access to.

This project developed specialized software that can quickly, accurately, and efficiently assemble and analyze long sequence reads without the need of supercomputers or advanced computer infrastructure.  The new tools have been made available online at no charge for non-profit researchers to use in their own sequencing projects, allowing teams around the world to make faster progress on diverse projects.  In some cases this impact is seen in the clinic, with a direct impact on public health and individual health.