Clinical Research Sequencing Platform (CRSP)

Our CLIA licensed, CAP accredited Clinical Research Sequencing Platform (CRSP) 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 CRSP 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.

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 Germline 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 the 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.

Exome Sequences Completed in 2015

2,116

Additional materials

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 PlaIorm 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.

Germline WES Product Data Sheet (215kb/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 (255kb/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)