Clinical Whole Genome Sample to Report

Access to best in class Whole Genome Data and access to an expert partner.

Superior data accuracy from the experts in genomic sequencing

With over 20 years as the leader in genomic sequencing, the Broad Institute has developed a PCR-free library construction process yielding high, even coverage of the entire genome, including exonic, intronic, GC-rich, and regulatory regions. This process has been used to sequence 300,000+ whole genomes.

All clinical sequencing is performed in our CLIA-licensed and CAP-accredited clinical research sequencing laboratory to produce high quality sequence data generated through the same exact processes that have produced hundreds of thousands of whole genomes for large resource datasets such as All of Us, TOPMed, and gnoMAD.

Features and Benefits

  • Processing of whole blood, saliva, buccal swab, or extracted DNA
  • PCR-free library preparation
  • Sample and data QC
  • Sample identity confirmation
  • Variant prioritization and annotation using Fabric Genomics ACE and GEM
  • Review by board-certified clinical geneticists
  • Order and report delivered through a secure portal or API
  • Read and variant level data available for research use

Rigorously validated, reliable clinical whole genome data

End-to-end PCR-free clinical whole genome sequencing workflow

Receive gDNA or extract nucleic acids

Sample QC and PCR-free library preparation

CLIA whole genome sequencing

Data analysis

Data delivered through secure online portal

See the Data

NovaSeq 6000 vs. NovaSeq X

As part of our commitment to providing unsurpassed excellence in sequencing, the Broad Institute now offers services utilizing the improved capabilities of the Illumina® NovaSeq X platform.

  • Improved genome coverage
  • Reduced base specific bias
  • Improved sensitivity for indels and CNVs

Data provided by Illumina®

Data produced at the Broad Institute

Data produced at the Broad Institute

Ready to get started?

Get a quote for clinical whole genome sequencing services.