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 a quarter million 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 Germline Exome Get a Quote

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


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). Starting with a 33mb Human Core Exome based on the Consensus Coding Sequence (CCDS) Project we’ve added 2mb of additional custom content curated from both our germline and somatic research community. Our exome covers the complete mitochondrial genome, ACMG59 genes, and now also targets additional RefSeq and Online Mendelian Inheritance in Man (OMIM) putative gene sequences, Catalogue of Somatic Mutations in Cancer (COSMIC) variants, key promoters and other motifs that have been identified as potential cancer hot spots.


Human Somatic Exome Get a Quote

  • Applicable for case samples in tumor-normal pairs or somatic mutation analysis
  • 100x or greater coverage across 85% of targeted regions
  • Ligation-based library construction
  • Also available as Express - 28 day turnaround time


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 100x or greater coverage across 85% of targeted regions. Utilizing ligation-based sample preparation followed by hybrid capture using our 38Mb whole exome design, aligned BAM files. Also available with a 28 day* turnaround time.  


*TAT does not include time for electronic data transfers.

Exome Sequences Completed in 2015


Additional materials

Human Whole Exome Product Data Sheet (155kb/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.

Working with FFPE Technical Note (903kb/pdf)

Broad Institue Genomic Services has made several improvements to standardize workflows and optimize success rates when working with FFPE and degraded samples.

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.