Whole exome sequencing

BostonGene’s whole exome sequencing (WES) of nearly 20,000 genes provides uniform coverage across 99.7% of coding regions and target biomarker regions, enabling unbiased detection of genetic variants in a CLIA/CAP environment.
To meet the demands of each research project, BostonGene offers flexible solutions, ranging from sample preparation and deep sequencing to raw data quality control and comprehensive bioinformatics analysis.

Genomic insights for biomarker discovery and patient stratification

BostonGene analyzes WES data to reliably identify the following genomic events:

Performance metrics

Somatic and germline genomic alterations

Single nucleotide variants (SNV)
Insertions / deletions (indels)
Copy number alterations (CNAs)

Genomic signatures

Loss of heterozygosity (LOH)
Tumor mutational burden (TMB)
Microsatellite instability (MSI)

Other WES capabilities

HLA haplotyping
Tumor clonal composition
Mutational signatures
Signaling pathway analysis based on genomic alterations

BostonGene was recognized as a designated laboratory for
the ComboMATCH Precision Medicine Clinical Trials.

Learn more

Assessment of genomic events:

Cancer type selection

Prevalence of potential drug targets and biomarkers, facilitating the identification of promising indications.

Co-occurring genomic events

Supporting the exploration of potential combination therapies and synthetic lethality.

Novel biomarkers

Single genomic events or signatures, associated with therapy response or resistance.

Custom panel and optimized mutation calling for biomarker discovery

Improved coverage of clinically relevant regions enhances biomarker detection.
A proprietary filtering algorithm ensures superior quality of mutation calling.
Multi-step quality control guarantees the integrity of each sample from DNA extraction to analyzed data.

Technical specifications

More about sample requirements

Explore BostonGene’s publications that utilize WES analysis

Cancer Research • April 7, 2024

Improved survival and unique mutational signatures in small cell lung cancer arising in patients with limited tobacco use

Article

Blood • November 28, 2023

Genomic and Transcriptomic Profiles of Blastoid and Pleomorphic Mantle Cell Lymphoma Are Distinct from Classic Histology Mantle Cell Lymphoma

Article

Journal of Clinical Oncology • June 1, 2023

Genomic characterization of the GATA3 mutational landscape in breast cancer

Article

Helpful resources

Analytical and clinical capabilities Clinical research solutions Laboratory capabilities Solutions for patients stratification and research Discovery solutions sample requirements