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

>=150X MTC

>250,000

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).

Ready to get started?

Get a quote for clinical exome sequencing services.

Tell us about your project