Human Whole Genome Sequencing

Leveraging over twenty years of experience in human whole genome sequencing, the Broad Institute offers whole genome sequencing utilizing the Illumina HiSeq X™ Ten. This latest advancement in sequencing technology combines significant advantages in cost and turn-around-time with best-in-class sample qualification and bioinformatics, allowing the Broad Institute to provide global researchers the tools to recognize the promise of human whole genome sequencing.

Thorough analysis of data produced using well-characterized samples was measured for sensitivity to detect variants, and compared with reference data to ensure concordance. These analyses have driven the definition of whole genome sequencing products to satisfy requirements of analysis tools in order to seamlessly test fundamental hypotheses related to human health.

High Coverage Whole Genome Sequencing (30X)

Widely considered the standard for whole genome sequencing, 30X mean coverage is used for a wide variety of studies for the discovery and identification of variants including singe nucleotide variants, structural variants, and copy number variants in coding and non-coding regions. 

Deep Coverage Whole Genome Sequencing (60X)

Useful for studies where deeper coverage is required, this product provides 60X mean coverage to increase the percentage of the callable genome, improving sensitivity to detect rare variants, while providing statistical power to filter false-positive calls.

What’s Included

Whole Genome Sequencing includes plating, library preparation, size selection, sequencing (150bp paired reads), sample identification QC and contamination fingerprinting via genotyping. The product provides a size selected library with a median insert size of 350bp +/- 20% and sequence coverage to specified mean target coverage. Data delivery will include a de-multiplexed, aggregated Picard BAM file, which will be accessed via FTP. Please note that these products are solely applicable to human samples. The input requirement fro Human Whole Genome Sequencing is 250ng of purified DNA, additional information on nucleic acid inputs can be found here.  In addition, DNA extraction from a variety of sample source materials is available.

If you would like to initiate a project or get more information, please use the Genomics Platform inquiry form to contact us. A member of the team will get in touch with you directly to discuss how to move forward with your project.