Whole Genome Sequencing – Genetic Resources Core Facility, Johns Hopkins University, School of Medicine

Whole Genome Sequencing

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

NEW: WGS Analysis, Updated Pricing

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

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	$1350/genome (sample number may lower price)

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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