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.
- 500ng input
- 38Mb Exome Design
- Somatic Variant Detection
- 150X MTC
- 21 calendar day TAT
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.
- 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
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.
Product datasheet including: Product Overview; What's Included; Performance Metrics; Input Requirements; and Data Deliverables
The Broad Clinical Research Sequencing Platform (CRSP) is a clinical laboratory accredited by the College of American Pathologists (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.
Development and clinical validation of a novel diagnostic test for Mucin1 kidney disease (MKD)
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.