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TCAG Facilities


The Informatics Facility is dedicated to analyzing data generated by TCAG facilities, for intramural or collaborative research projects and for fee-for-service projects. We are specialized in (a) copy number variation detection from array data and (b) NGS (Next Generation Sequencing) data analysis, such as mapping sequences to a reference genome, rare single nucleotide variant detection, RNA-seq analysis, ChIP-seq analysis, de-novo genome assembly.

Fee-for-service analysis of NGS data is offered by the Informatics Facility, whereas fee-for-service analysis of copy number variation is offered by the Statistics Facility.

Please see our terms of use.

1. Service analysis portfolio

  • Mapping NGS reads to a reference genome
  • Rare single nucleotide variant (SNV) detection, from exome or whole-genome re-sequencing
    • raw reads alignment
    • variant calling and filtering by quality criteria
    • variant filtering by frequency in apparently healthy population
    • annotation
    • phenotypic effect prediction
    • visualization support
  • RNA-seq
    • rdifferential expression quantification
    • rsplicing isoform detection
    • rgene fusion detectionc
  • ChIP-seq
    • alignment
    • peak calling
    • annotation
  • Bisulfite-seq methylation site detection
  • De-novo genome assembly (up to 2-2.5 GB)
  • Your custom analysis based on any combination of the methods/tools described on this page

2. Software

We preferentially use open-source software.

Alignment recalibration and SNV calling
  • GATK (Genome Analysis Toolkit)
G Genotype refinement
SNV phenotype prediction
SNV visualization
Genome Assembly

3. Pricing

Pricing varies according to project's goal and type of analysis required. Please contact the facility manager to discuss the details of the analysis requirements

4. Facility Contact

Bhooma Thiruvahindrapuram
Facility Manager, Scientific Lead

The Centre for Applied Genomics
The Hospital for Sick Children
Peter Gilgan Centre for Research and Learning
686 Bay Street, 13th Floor
Toronto, Ontario
M5G 0A4, Canada
Tel.: (416) 813-7654 ext. 307032
Fax: 416-813-8319, Internal: 208319

For questions or comments contact the TCAG Manager,

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