Clinical Research Technologies

Validated Assays

Currently, CRSP can offer Whole Exome Sequencing that leverages the Broad-developed solution-phase hybridization assay and exome content from Agilent SureSelect. This assay has been used to great effect on >80,000 research samples over the last 4 years at the Broad.

Reporting and Data Delivery

The Clinical Exome V1 is a technical exome product. With this in mind, the deliverables are a technical report as well as a GATK variant call format (VCF) file and Picard-generated BAM file. The technical report outlines process specifications and performance of the sample with respect to these specifications. The VCF file lists all single nucleotide and indel variants identified by the analytics pipeline.

Data Access and Retention

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.

Turn-Around-Time

Processing times is 3 weeks from sample receipt to delivery of the technical report, GATK-generated VCF, and aggregated Picard BAM files.