Whole Exome Sequencing

Our Human Whole Exome products provide you with the quality, reliability, and speed that come as a result of our experience sequencing more than 150,000 exomes. Optimized for depth and evenness of coverage, with high sensitivity to detect SNVs and indels, our exomes are available with guaranteed turnaround times of as little as 28 days.

Human WES (Standard) Get a Quote

  • Utilizes HiSeq 4000
  • Appropriate for a wide variety of non-cancer applications
  • 85% of targeted bases at 20X or greater coverage (~60X MTC)
  • Transposase-based library construction
  • ~350bp insert size
  • 2 x 150Bp reads

Details

Used for detecting variants across a variety of medical and population genetics studies, our standard Human WES provides 20X or greater coverage across 85% of targeted regions (60X MTC). Utilizing transposase-based sample preparation followed by hybrid capture using our 38Mb whole exome design and sequenced on the HiSeq 4000 with 2x150bp reads, aligned BAM files are available with a 8-10 week turnaround time.

Human WES Express (Standard) Get a Quote

  • Suitable for control samples in tumor-normal pairs or somatic mutation analysis
  • 80% of targeted bases at 20X or greater coverage (~60X MTC)
  • Ligation-based library construction
  • 28 day turnaround time*

Details

Useful for variant detection in case control (normal) samples from tumor normal pairs, our Standard Human WES Express provides 20X of greater coverage across 80% of targeted regions (~60X MTC). Utilizing ligation-based sample preparation, followed by hybrid capture using our 38Mb whole exome design, aligned BAM files are available with a 28 day* turnaround time. *TAT does not include time for electronic data transfers.

Human WES Express (Deep) Get a Quote

  • Applicable for case samples in tumor-normal pairs or somatic mutation analysis
  • 85% of targeted bases at 50X or greater coverage (~150X MTC)
  • Ligation-based library construction
  • 28 day turnaround time*

Details

Applicable for variant detection in tumor samples or other applications where the ability to detect rare variants is required, our Deep Human WES Express provides 85X or greater coverage across 50% of targeted regions (150X MTC).  Utilizing ligation-based sample preparation followed by hybrid capture using our 38Mb whole exome design, aligned BAM files are available with a 28 day* turnaround time.  *TAT does not include time for electronic data transfers.

Exome Sequences Completed in 2015

2,116

Additional materials

Human Whole Exome Product Data Sheet (347kb/pdf)

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.

AGBT 2016 Poster on Handling Variable Performance of FFPE Samples (2mb/pdf)

The trouble with FFPE: Handling variable performance of FFPE samples through deep coverage exome sequencing and detecting artifactual mutations from FFPE damage in exome data

AGBT 2016 Poster on Development of a Multiplex PCR to MiSeq-Based DNA Fingerprinting Process for Contamination and Sample Swap Detection (514kb/pdf)

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.