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Whole Exome Sequencing

Leveraging vast experience in the production and analysis of human whole exome sequence data, our research offerings represent the cumulative output of the Broad Institute’s knowledge, maximizing specific utility for variant discovery in specific disease areas. Careful analysis of sample inputs, library construction methods, and coverage deliverables has resulted in a set of offerings to provide optimal data to drive scientific discovery.

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 XTM 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.

PCR Free Human Whole Genome Sequencing

Preparation of sequence-ready libraries without the need for PCR amplification presents advantages in data quality for human whole genome sequencing. These advantages include a marked reduction in base specific biases that are attributed with DNA polymerases. Additional benefits to PCR-Free Human Whole Genome Sequencing significant improvements in the sensitivity to detect and reduction in false positive observations when calling indel and copy number variants.

Whole Transcriptome Sequencing

Whole Transcriptome Sequencing has become an invaluable tool for performing fundamental research surrounding transcript discovery, genome annotation and expression profiling. Working closely with scientists within and outside the Broad Institute, the Genomics Platform has performed a thorough evaluation of available technologies and optimized processing conditions to provide the highest quality whole transcriptome sequencing products possible.

GATK ACNV: allelic copy-number variation discovery from SNPs and coverage data

Poster from AACR 2017 conference on the presence of somatic copy-number alterations in tumor genomes that can be used to predict both patient sensitivity to treatments as well as outcomes.