AGTC Genomics

Whole Genome Sequencing

Human whole genome sequencing (hWGS) enables researchers to describe the full genetic composition of individuals and characterize entire human genomes. It allows the identification of genomic variation information, including single-nucleotide polymorphisms (SNPs), insertions and deletions (InDels), structural variations (SVs), and copy number variations (CNVs) in a single and cost-efficient assay.

Overview

Human whole genome sequencing (hWGS) enables researchers to describe the full genetic composition of individuals and characterize entire human genomes. It allows the identification of genomic variation information, including single-nucleotide polymorphisms (SNPs), insertions and deletions (InDels), structural variations (SVs), and copy number variations (CNVs) in a single and cost-efficient assay.

Our hWGS services offer the reliability and scalability to produce results you can trust for any size study. Combining the latest sequencing technology with the capabilities in process design, automation, and informatics, we produce the highest quality, most scalable whole genome sequencing available.

What’s Included

  • Sample Receipt and Initial QC
  • Library Construction and QC
  • 2 x 150bp Paired Sequencing: 30x, 60x
  • Data Delivery

Data Deliverable

  • Data accessed via secure online digital transfer
  • Alignment with reference genome
  • Germline SNP/InDel/SV/CNV detection
  • Somatic SNP/InDel/SV/CNV detection (for tumor-normal paired samples)
  • Germline Variant Call Format (VCF)

Whole Genome Services

Service Utility DNA Input Compatible Extractions Coverage
Standard Coverage Human WGS Medical & population genetics, disease research, and evolution studies 350 ng Fresh frozen tissue, blood, saliva, cell pellets, or buffy coats 30X
Deep Coverage Human WGS Rare disease population studies, and Case/proband for case-control tumor/normal & trio/somatic analysis 350 ng Fresh frozen tissue, blood, saliva, cell pellets, or buffy coats 60X
Common Disease WGS Screening and large population studies 350 ng Fresh frozen tissue, blood, saliva, cell pellets, or buffy coats Variable