Our Human Whole Genome products offer the reliability and scalability to produce results you can trust for any size study. Combining the latest sequencing technology with the Broad industry-leading capabilities in process design, automation, and informatics produces the highest quality, most scalable whole genome sequencing available.
- 30X Mean Coverage
- PCR-Plus Sample Prep
- 250ng Input DNA
Applicable for a wide variety of applications including discovery and identification of singe nucleotide variants, structural variants, and copy number variants in coding and non-coding regions, our Standard Human WGS provides 30X mean coverage across the genome. Standard Whole Genome Sequencing provides population scale sequencing with as little as 250ng input DNA.
- 60X Mean Coverage
- PCR-Plus Sample Prep
- 250ng Input DNA
Appropriate for studies where deeper coverage is required, our Deep Human WGS 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. Deep Coverage Human WGS can be used for genome-wide SNV, Indel, and CNV analyses using as little as 250ng input DNA.
- 30X Mean Coverage
- PCR-Free Sample Prep
- 275ng Input DNA
Effective for studies where sample material is not limiting, Standard Coverage PCR-Free whole genome sequencing presents improvements in bias, and reduces false positive calling of Indels and copy number variants. Combining PCR-Free sample preparation with the latest Illumina sequencing platform, provides high-quality data for genome-wide variant discovery.
- 60X Mean Coverage
- PCR-Free Sample Prep
- 275ng Input DNA
Suitable for studies where sample material is not limiting, Deep Coverage PCR-Free whole genome sequencing presents improvements in base-specific bias, and reduces false positive calling of Indels and copy number variants. Combining PCR-Free sample preparation with the latest Illumina sequencing platform, Deep Coverage PCR-Free WGS provides the highest quality, most sensitive whole genome sequencing available.
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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.
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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.
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Broad Institue Genomic Services has made several improvements to standardize workflows and optimize success rates when working with FFPE and degraded samples.
PCR-free human whole genome libraries sequenced on the Illumina HiSeq X are the current NGS gold standard for population-scale genomics, Mendelian disease gene discovery, and understanding the genetic components of common diseases.
Despite the fact that we have access to advanced laboratory automation systems with integrated LIMs tracking, incorrect sample identification uploads, sample swaps and contamination still occur. To address this, we have devised a new multiplex PCR to MiSeq-based DNA fingerprinting assay for checking sample identity.
Maximizing effieciency for a fleet of DNA sequencers requires rapid insight into the progression of each sample towards coverage and quality goals. Quickly obtaining this information across large number of samples is compounded by high degrees of sample multiplexing. Standard end-to-end analytical pipelines are not designed for such a purpose and become bottlenecks.
Traditional next generation sequencing library preparation is time-consuming and requires specialized shearing instrumentation as well as several enzymatic reactions and cleanup steps.
Obtaining saliva for genomic analysis has become increasingly popular as collection kits are easy to use and less invasive than blood draws or biopsies. However, a major drawback of saliva is the presence of often high levels of non-human contamination mainly due to oral bacteria, requiring costly additional sequencing to reach 30X human genomic coverage and impacting downstream data analysis & variant calling.