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Human Whole Genome Sequencing

Access both research and clinical-grade whole genome sequencing services backed by 30 years of field-leading experience in providing high quality, reliable data at scale.

Human Whole Genome Sequencing

30x Short read WGS on the
Illumina® NovaSeq X Plus starting at $350

24x Long read WGS on the
PacBio Revio starting at $1600

Services utilizing the
Illumina® NovaSeq X Plus

Services utilizing the PacBio Revio

>550,000 whole genomes sequenced to date

>550,000 whole genomes sequenced to date

Human Whole Genome Sequencing with Broad Clinical Labs

Short Read WGS Services

Short Read WGS Services

Our WGS services utilize Illumina’s latest technology, the NovaSeq X Plus. All samples for WGS services are processed in our CLIA licensed and CAP accredited facility with rigorous quality control throughout processing. We provide dedicated project management to guide you through project onboarding, sample logistics management, and data delivery.

We offer both PCR-free and PCR-plus Research WGS services. While PCR-free services yield superior coverage evenness and the lowest GC bias, PCR plus services enable high quality data generation from samples whose quality or quantity is limiting (e.g. FFPE).

We offer Clinical WGS services with either a technical report or an interpreted report, depending on your needs.

Long Read WGS Services

Long Read WGS Services

Our long read WGS services utilize PacBio’s latest technology, the Revio, to generate HiFi reads using circular consensus sequencing (CCS) sequencing, producing base-level resolution with 99.9% single-molecule read accuracy.

This long read output can be used for de novo sequence assembly, small and large variant detection, haplotype phasing, and epigenetic characterization (methylation).

Compare Human WGS Services

ServicesInputsOutputs
PCR-Free WGS on Illumina® Platform (Research); 30x or 60x coverageGenomic DNA (≥750ng, ≥7ng/µl), Whole Blood, Saliva, Buccal Swabs, PBMCs, Cell Pellet, Buffy Coat, Fresh Frozen Tissue, and moreAggregated, aligned sequencing data (CRAM file); variant calling files (gVCF, individual VCF files), including SNVs, InDels, CNVs; joint calling also available
PCR-Plus WGS on Illumina® Platform (Research); 30x or 60x coverageGenomic DNA (≥250ng, ≥2ng/µl) or FFPE tissueAggregated, aligned sequencing data (CRAM file); variant calling files (gVCF, individual VCF files), including SNVs, InDels, CNVs; joint calling also available
Long-read WGS on PacBio Platform (Research); 12x or 24x coverageHigh Molecular Weight Genomic DNA (≥4µg, ≥30ng/µL, ≥100µL, with ≥50% DNA ≥40kB fragment size. Recommeded A260/230≥1.8)CCS error-corrected, aggregated, and aligned BAM files
Clinical WGS
(PCR-Free, Illumina® platform)
Genomic DNA (≥1µg, ≥10ng/µL), Whole Blood, Saliva, or Buccal SwabTechnical report, or clinical interpretive report (SNVs, InDels, CNVs) with variant prioritization and annotation; screening and diagnostic interpretive reports available; read and variant level data available for research use

Applications

Research

Clinical

Medical and population studies

Disease risk screening

Disease research

Carrier screening

Genome-wide association studies

Diagnostics (gene panel or whole genome)

Biomarker discovery

Clinical trials

Gene-edit screening and QC

Pharmacogenomics

Research

Medical and population studies

Disease research

Genome-wide association studies

Biomarker discovery

Gene-edit screening and QC

Clinical

Disease risk screening

Carrier screening

Diagnostics (gene panel or whole genome)

Clinical trials

Pharmacogenomics

Project Workflow

Project onboarding

Project onboarding
(contracting if required)

Regulatory Review
Quoting
Sample Kits

Sample intake and QC
(extraction optional)

Sample types vary by platform and service

Clinical includes: whole blood, buccal swab, saliva

Library Receipt at BCL

Library construction

PCR-Free
PCR-Plus
PacBio CCS

Sequencing

Sequencing

Illumina (short read)
PacBio (long read)

Data delivery

Data and report delivery
(bioinformatic analysis optional)

See table above for available research and clinical service deliverables

Data delivered via secure
Cloud based platform

To get started with Human Whole Genome Sequencing services, please fill out the appropriate form, and a project manager will reach out to you.

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