GENOMICS

WGS (WHOLE GENOME SEQUENCING)

Whole genome sequencing delivers a comprehensive view of the entire genome. It is ideal for discovery applications, such as identifying causative variants and novel genome assembly.  Whole-genome sequencing can detect single nucleotide variants, insertions/deletions, copy number changes, and large structural variants.  With the NovaSeq, we now offer WGS more efficiently and cost-effectively than ever before. Sample requirements can be found here.  For deeper coverage applications, contact us at genomics@cshs.org

Exome sequencing is a cost-effective approach when whole genome sequencing is not practical or necessary. The exome (the protein-coding region of the human genome) represents less than 2% of the genome, but contains ~85% of known disease-related variants.  Researchers can identify genetic variations that are responsible for both Mendelian and complex diseases without the high costs associated with whole genome sequencing.  Whole exome enrichment is designed based on the latest human hg38 annotation.  Sample requirements can be found here.  For deeper coverage applications, contact us at genomics@cshs.org

WES (WHOLE EXOME 

SEQUENCING)