KCCG Core Facility

HISEQ X TEN WHOLE GENOME SEQUENCING

• Clinically accredited laboratory (ISO 15189) and Precision FDA award-winning bioinformatics analysis
  
• TruSeq Nano or KAPA PCR-Free library preparation
  
• Flexible choice of 15x (TruSeq Nano) or 30x coverage for human DNA (as defined by Illumina^)
  
• Flexible choice of ≥50Gb (TruSeq Nano) or ≥100 Gb raw data
  
• Guaranteed ≥75% bases above Q30
  
• 150bp paired-end read length
  
• Includes DNA and library QC
  
• Delivery of FASTQ data via online portal DNAnexus or hard drive (additional cost) with clinical-grade security and privacy
  
• Turn around time - 6 weeks from sample receipt to data delivery
  

Add-on services:
- Precision FDA award-winning bioinformatics analysis using gold-standard alignment software GATK and variant calling software BWA to generate best practice BAM and VCF files
- Hard drive delivery

^ in line with Illumina’s ‘Sequencing Coverage Calculation Methods for Human WGS’ documentation

The HiSeq X™ Ten system is exclusively for whole genome sequencing. Sequencing services are presently available for research purposes only. Services are not available to members of the public or for personal sequencing. Researchers are responsible for ensuring that all relevant ethics approvals have been obtained prior to providing samples.

Please refer to the Resources section for additional submission information.

Instrumentation: HiSeq X Ten

The Chromium Genome Solution in combination with the HiSeq X Ten unlocks the analysis of large and complex rearrangements of the genome.

• 30x coverage for human DNA
  
• ≥100 Gb raw data
  
• ≥75% bases above Q30
  
• 150bp paired-end read length
  
• Includes DNA and library QC
  
• Delivery of FASTQ data via online portal DNAnexus or hard drive (additional cost) with clinical-grade security and privacy
  
• Turn around time - upon request
  

Add-on services:
- Chromium Genome Solution library preparation
- Precision FDA award-winning bioinformatics analysis using gold-standard alignment software GATK and variant calling software BWA to generate best practice BAM and VCF files
- Hard drive delivery

Please refer to the Resources section for additional submission information.

Instrumentation: 10x Chromium System

Precision FDA award-winning bioinformatics analysis using gold-standard alignment software GATK and variant calling software BWA to generate best practice BAM and VCF files

Garvan’s KCCG team achieved the highest overall precision in detecting SNPs in the unknown genome, in an international competition designed to test the performance of genome informatics pipelines worldwide. The team’s precision level of over 99.98% earned them the “SNP Precision” award. In addition, the team gained several commendations for both sensitivity and precision in detecting insertions and deletions.