Whole exome sequencing with sensitive variant detection

High coverage somatic variant calling with our trusted whole exome sequencing solution.

Identify somatic variants with confidence

Our CLIA-licensed, CAP-accredited clinical research sequencing laboratory provides end-to-end, high scale exome sequencing using our optimized workflow.

Dedicated project managers will work with you throughout the process to ensure delivery of data you can rely on for sensitive somatic variant detection.

Clinical Whole Exome Sequencing with Somatic Analysis

Features

  • Somatic variant calling
  • 38Mb exome design

Requirements

  • 500ng input
  • Tumor/Normal sample pairs

Deliverables

  • Picard-generated BAM files
  • Somatic SNV [VCF] files
  • Indel mutation annotation [MAF] files
  • CNV calls

The experience and capacity to deliver high quality exome data

End-to-end clinical exome sequencing solution

Experimental planning

Sample prep

Sequencing

Data analysis

Published exome and variant detection studies

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing1

A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries2

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples3

Whole-exome sequencing and clinical interpretation of FFPE tumor samples to guide precision cancer medicine4

1. Gnirke et al. Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nature Biotechnology 27, 182 – 189 (2009).
2. Fisher et al. A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries. Genome Biology 12:R1 (2011).
3. Cibulskis et al. Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. Nature Biotechnology 31, 213–219 (2013).
4. Allen et al. Whole-exome sequencing and clinical interpretation of FFPE tumor samples to guide precision cancer medicine. Nature Medicine 20. 682-8. (2014).

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