- January 30, 2012
Nature Methods article - Identifying Structural Variation - January 3, 2012
Ontario Genomics Institute Grantees to Compare Exome Capture Kits
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March 21, 2012
Special symposium in honour of Dr. Lap-Chee Tsui - February 6, 2012
Canadian Bioinformatics Workshop Series 2012
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.
- 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
We preferentially use open-source software.
- Alignment
- BLAT
- BFAST
- BWA
- SHRiMP (specific for SOLiD color space)
- Newbler / GS Mapper (specific for 454 data or Illumina-converted-to-454 data)
- Alignment recalibration and SNV calling
- GATK (Genome Analysis Toolkit)
- G Genotype refinement
- SNV phenotype prediction
- SNV visualization
- RNA-seq
- ChIP-seq
- Bisulfite-seq
- Genome Assembly
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
The Centre for Applied Genomics
The Hospital for Sick Children
MaRS Centre - East Tower
101 College Street, Room 14-701
Toronto, Ontario
M5G 1L7, Canada
Tel.: (416) 813-7032 Fax: (416) 813-8319
Email: