Clinical Research Sequencing

Our CLIA licensed, CAP accredited Clinical Research Sequencing laboratory provides physicians and physician-researchers with high quality molecular tests such as Whole Exome Sequencing with rapid turnaround times for use in a clinical setting. In addition, our certified lab provides clinical researchers with high quality sequencing services under a quality system for use in clinical trials.

Clinical Whole Exome Sequencing with Germline Analysis Get a Quote

  • 500ng input
  • 38Mb Exome Design
  • 100X MTC
  • 21 calendar day TAT

Details

The Clinical Whole Exome Sequencing with Germline Analysis is a technical exome product useful for discovery of variants that do not have well-characterized associations with disease biology, including rare coding variants. With this in mind, the deliverables are a technical report, as well as a Picard-generated BAM file. The technical report outlines process specifications and performance of the sample with respect to these specifications. The VCF files list all single nucleotide and indel variants identified by the analytics pipeline. All files are accessible via a dedicated, secure data portal. Data will be stored in accordance with relevant federal and state regulations for CLIA or clinical trials testing as appropriate.

*This assay may identify mutations for which clinical significance has not been determined.

*This assay will not detect genomic rearrangements, epigenetic changes, or other structural genomic changes, and is not validated for copy number detection or germline mosaicism.

*This assay is not suitable for analysis of the mitochondrial genome.

Clinical Whole Exome Sequencing with Somatic Analysis Get a Quote

  • 500ng input
  • 38Mb Exome Design
  • Somatic Variant Detection
  • 150X MTC
  • 21 calendar day TAT 

Details

The Clinical Whole Exome Sequencing with Somatic Analysis is a technical exome product useful for discovery of somatic variants that do not have well-characterized associations with disease biology, including rare coding variants. The deliverable for our Somatic test is a technical report, Picard-generated aggregated, aligned BAM files, somatic and InDel mutation annotation format (MAF) files through the Broad’s cancer analysis Firehose pipeline. The technical report outlines process specifications and sample performance. The VCF/ MAF files list all single nucleotide and indel variants identified by the analytics pipeline. All files are accessible via a dedicated, secure data portal. Data will be stored in accordance with relevant federal and state regulations for CLIA or clinical trials testing as appropriate.

Clinical Whole Genome Sequencing Get a Quote

  • 750ng input
  • Coverage of ≥95% of bases ≥20x
  • 28 calendar day TAT 
  • CLIA Certified  and College of American Pathologists (CAP) accredited
  • Built around our tried and tested PCR-Free whole genome sequencing process

Details

Clinical Human Whole Genome Sequencing provides validated, high quality sequence data generated through the same processes that have produced >100,000 research genomes - including genomes that have been included in large resource datasets such as TOPMed and GnoMAD.

 

Exome Sequences Completed in 2015

2,116

Additional materials

Clinical Whole Genome Sequencing (81kb/pdf)

Product datasheet including: Product Overview; What's Included; Performance Metrics; Input Requirements; and Data Deliverables

Germline WES Product Data Sheet (147kb/pdf)

The Broad Clinical Research Sequencing Platform (CRSP) is a clinical laboratory accredited by the College of American Pathogists (CAP), licensed by the State of Massachusetts and registered with the Centers for Medicare and Medicaid Services to provide testing under the CLIA regulations. The Clinical Research Sequencing Platform was created to further the Broad Institute mission of creating, and making available tools for genomic medicine, and applying them to human disease.

Somatic WES Product Data Sheet (247kb/pdf)

The Broad Clinical Research Sequencing Platform (CRSP) is a clinical laboratory accredited by the College of American Pathogists (CAP), licensed by the State of Massachusetts and registered with the Centers for Medicare and Medicaid Services to provide testing under the CLIA regulations. The Clinical Research Sequencing Platform was created to further the Broad Institute mission of creating and making available tools for genomic medicine, and applying them to human disease.

ASHG 2015 Poster: MKD Assay (779kb/pdf)

Development and clinical validation of a novel diagnostic test for Mucin1 kidney disease (MKD)

AGBT 2015 Poster: Delivering Population-Scale Genomics: A Deep Dive into HiSeqX Performance and Capabilities (891kb/pdf)

The introducton of the Illumina HiSeqX sequencers has enabled the Genomics Platform at the Broad Insitute to generate an unparalleled amount of data. To fully maximize the benefits of the HiSeq X plaIorm, a significant effort was undertaken to scale-up the output of high quality sequencing data.

Broad Institute Genomic Services CLIA Accreditation (262kb/pdf)
CLIA Certificate of Accreditation
CLIA ID NUMBER: 22D2055652
EFFECTIVE DATE: 05/14/2016
EXPIRATION DATE: 05/13/2018
Broad Institute Genomic Services CAP License (2mb/pdf)
Broad Institute Genomic Services CAP License
CAP NUMBER: 8707596
AU-ID: 1683283
CLIA NUMBER: 22D2055652
EXPIRATION DATE: 01/27/2020