Exome Sequencing at the TGC

 

  • Sample preparation and enrichment by our highly experienced team
  • Sequencing on HiSeq 2500
  • Exome Bioinformatic Analysis

We kindly invite you to a free consultation meeting, where we will present the workflow and the full set of updates, and together we will build the most suitable setting for your project’s needs.

Our Exome bioinformatics pipeline utilizes the newest version of the well-known ‘GATK’ (Genome Analysis ToolKit)  software for variant discovery, including SNVs (Single Nucleotide Variant) and Indels.

The workflow enables setting of project-specific merging and filtering criteria for related samples, as well as integrating the variant discovery results with a variety of databases and prediction scores.

The main features of the pipeline include:

Functional predictions:

  • Polyphen2
  • GERP++ (Genomic Evolutionary Rate Profiling)
  • DANN (Annotating pathogenicity of genetic variants)
  • SIFT

Gene-based annotations

  • vGene identifier and symbol
  • v Region type (Exonic/ncRNA/intronic/etc.)
  • For exonic variants:
  •        Amino acid change
  •        SNV effect (Synonymous/stop gain/ frameshift deletion/etc.)

Allele frequencies:

  • v1000Genomes
  • vExAC

Others

  •  dbSNP identifiers
  •  ClinVar