Whole Genome Sequencing

The GRCF is proud to offer whole genome sequencing on the NovaSeq 6000

Human Whole Genome

Human genome sequencing at 30x average coverage, from short-insert paired-end reads using a single library.

Input DNA Requirement: 1ug high molecular weight genomic DNA for PCR free (preferred), 500ng for PCR based methods

Deliverables:

  • Genomic coverage at a minimum of 30x
  • Single sample, multi-sample, and trio de novo calling using Illumina’s DRAGEN pipeline
  • SNPS/Indels, Structural Variants, and CNV files reported in VCF format
  • Annotation using Annovar and AnnotSV
  • Concordance with whole-genome genotyping arrays
  • Raw data (reads and quality scores) and analyzed data in industry-standard format (archival BAM)
  • Comprehensive QC Report
$ 650

per genome

(sample number may lower price, saliva +25%)

$ 50

per sample

Whole Genome Analysis

We now offer analysis of previously generated whole genome data, including mapping, multisample calling, and annotation. Cost is $50/sample. More details below. Thanks to lower pricing of v1.5 reagents, we now offer lower whole genome pricing.

Input Requirements: demultiplexed fastq or BAM/CRAM

Deliverables:

  • Single sample, multi-sample, and trio de novo calling using Illumina’s DRAGEN pipeline
  • SNPS/Indels, Structural Variants, and CNV files reported in VCF format
  • Single sample, multi-sample, and trio de novo calling using Illumina’s DRAGEN pipeline
  • Annotation using Annovar and AnnotSV
  • Comprehensive QC Report