The UGC offers a variety of bioinformatics services.  Standard processing for DNA sequencing data includes analysis using the UGC’s validated pipelines for alignment and variant calling and additional tools like Picard and internally developed QC software to track quality metrics and detect sample contamination and sample swaps.  Additionally, the UGC bioinformatics team has implemented a variety of analysis tools for structural variant (SV) calling, copy number variation (CNV), loss of heterozygosity (LOH) and RNA-seq analysis. For each sample sequenced, we can return fastq, bam, and vcf files.  Custom analyses are considered.

A list of bioinformatics services can be found below.

Germline

Whole genome & Whole Exome
Alignment
SNV and Indel Calling
Structural Variant Calling

Somatic

Whole genome & Whole Exome
Alignment
SNV and Indel Calling
Structural Variant Calling
Integration with germline DNA and RNAseq expression information

RNA seq

Differential expression analysis
Variant Calling
Functional annotation
Fusion gene discovery