Whole Genome Sequencing

The GRCF High Throughput Sequencing Center now offers whole genome sequencing on the NovaSeq 6000.

NEW: WGS Analysis

We now offer analysis of previously generated whole genome data, including mapping, multisample calling, and annotation. Cost is $50/sample. More details below.

Human Whole Genome

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


Sample Requirements	Input DNA amount: 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
Pricing	$1500/genome, highly dependent upon sample number

Linked Read Whole Genome

10X linked read whole genome sequencing at 30x average coverage, from 10X GemCode library, short-insert paired-end reads.


Sample Requirements	Input DNA amount: 1.2ng high molecular weight genomic DNA (>50Kb minimum)
Deliverables	Genomic coverage at a minimum of 30x Whole Genome Phasing and SV calling via 10X Longranger Pipeline SNP/short indel calls using GATK/Freebayes Concordance with whole-genome genotyping arrays Annotation of SNPs and indels in VCF format (dbSNP, gene, exon, transcript) Raw data (reads and quality scores) and analyzed data in industry-standard format (archival BAM). Loupe browser file
Pricing	$3000/genome, highly dependent upon sample number

We also offer de novo whole genome assembly using 10X linked reads. Please inquire if interested, as pricing depends on genome size and complexity.

Whole Genome Analysis


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
Pricing	$50/sample

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Sequencing