Whole Genome/Targeted Sequencing Applications

Whole Genome Sequencing (often referred to as whole genome shotgun or WGS) is best suited for applications that require comprehensive, unbiased genome interrogation, including:

  • Variant discovery across coding and non-coding regions, particularly when regulatory elements or intergenic variants may be important.
  • Structural variant and copy number analysis, especially when paired with long-read sequencing.
  • De novo genome assembly for non-model organisms or highly divergent genomes.
  • Cancer and somatic genomics, where complex rearrangements and genome-wide alterations are common.
  • Population and evolutionary genomics, enabling genome-wide association and comparative analyses.

WGS is an approach compatible with any sample type, including cells, tissues, low-input, blood, FFPE, biopsies, environmental samples, ancient samples, and many more. The quality of the data is reliant on the quality and quantity of the sample.

The CGI supports WGS approaches for Illumina short read sequencing on the NovaX+, Nextseq2000, i100+, or MiSeq. The instrument chosen is dictated by the sample genome size and depth of sequencing coverage requested. 

The CGI offers sample processing, library preparation and sequencing for the following WGS approaches. Please visit Next Generation Sequencing and Arrays to learn more about sequencing output and instruments.

  • Illumina WGS
    • Standard
    • Low input
  • Long-read shotgun sequencing (note that these long read platforms provide native epigenomics in addition to DNA sequence)
    • PacBio
    • Oxford Nanopore

Supported reduced representation and targeted approaches include:

  • Exome capture
  • ddRAD-seq
  • customer prepared target capture baits
  • commercially available panels from Illumina (currently offering ~40 panels, including Ampli-seq, TruSight, Pillar and Viral panels)

Customer prepared libraries

We support complex libraries made by customers for applications such as:

  • Pool-seq
  • Hi-C
  • Omni-C
  • Pore-C
  • CiFi
  • Micro-C
  • Link-prep
  • ChIP-seq
  • CUT&RUN
  • CUT&Tag
  • DiMeLo-seq
  • Fiber-seq
  • ATAC-seq