Short-Read Sequencing

OeXome™
Whole Exome Sequencing (WES)

Technology Transfer: A Complete In-House WES Solution for Clinical Laboratories

Balancing Coverage and Cost

Exons comprise only ~1% of the genome¹ yet harbor 85% of known pathogenic variants². OeXome™ WES offers a cost-effective solution for investigating complex genetic conditions where targeted sequencing is most likely to yield meaningful findings.

By combining our proprietary NanoWES™ library prep with our advanced bioinformatics pipeline, OeXome™ delivers in-depth, reliable results for analyzing patient phenotypes, fetal abnormalities, rare diseases, and research study.

Visit Send-Out WES Option

Comprehensive Capture Range

Our proprietary NanoWES™ dsDNA capture probe (>65 Mb) goes beyond standard exome targeting. It is engineered to capture a wide spectrum of variants, including all protein-coding and flanking regions, pathogenicity-defined intronic and regulatory regions, RefSeq regions, and the mitochondrial genome.

Optimized for "Hard-to-Map" Genes

Standard probes often struggle with complex genomic regions. NanoWES™ utilizes specialized probe designs to significantly improve capture efficiency for clinically critical, difficult-to-map genomics regions, including:

Spinal Muscular Atrophy (SMA)
Duchenne Muscular Dystrophy (DMD)
Congenital Adrenal Hyperplasia (CAH)
Thalassemia

Proprietary NanoWES™ Capture Technology

The NanoWES™ workflow is optimized for routine clinical testing, offering robust performance even with challenging sample types.

Validated for inputs as low as 50 ng, ensuring consistent library quality from difference sample types such as amniotic fluid and Dried Blood Spots (DBS)
Our pre-capture PCR-free approach reduces hand-on time without sacrificing quality
Utilizing 1 single-plex capture (1 sample per reaction) ensures data consistency across different samples

The Result: Industry-Leading Uniformity, Lowering the sequencing cost

By eliminating pre-capture amplification, we reduce amplification bias, resulting in lower error and duplication rates.

Delivers uniform coverage, minimizing data waste
Improved uniformity makes variant calling more accurate, particularly for exon-level CNVs (which require highly uniform depth across exons) and low-level mosaicism (distinguish from noise)

WESisi System: From Sample to Report

The WES Integrated System of Interpretation (WESisi) is a comprehensive management platform covering the entire workflow—from sample registration to final clinical report. The system available as a secure Cloud solution or implement into a Local Server.

Compatibility

Suitable for WES and other NGS panel
Compatible with external sequencing data, various capture probes
Equipped with industry-standard tools alongside our proprietary algorithms

AI-Powered Variant Prioritization with Berrlyzer™

This automates HPO extraction and variant prioritization, identifying the causative variant within the top 30 candidates in 99.25% of cases.

Unrivaled Proprietary Database

Beyond standard public databases (ClinVar, HGMD, gnomAD), our system integrates a proprietary dataset of 3 million individuals while enabling the construction of your own local database. These combined resources provide critical evidence to resolve borderline VUS and refine interpretation.

Explore

Proven Quality: Proficiency Testing

To systematically assess the comparability of clinical WES results, the National Center for Clinical Laboratories (NCCL) conducted a proficiency test across 24 participating laboratories³. Our labs (BerryExon, Lab 9 & 10) surpassed other commercial labs in breadth of coverage, uniformity, and bioinformatic reproducibility on small variants.

Top Uniformity: Consistently achieved the best WES uniformity with the lowest Fold-80 scores. In challenging samples (Sample 2014), our lab maintained a low Fold-80, while most labs saw significant degradation (>2.0)

ACMG Gene Coverage: We achieved 95-100% coverage of listed ACMG genes (target % ≥ 20x), a benchmark missed by multiple laboratories even at high mean depths

End-to-End Technology Transfer

Xcelom Limited and Berry Genomics provide an end-to-end turnkey solution for labs wishing to conduct this test in-house. We specialize in bioinformatics and analysis support, helping laboratories master the complexities of variant annotation and interpretation. Our solutions streamline the workflow and assist with ACMG classification by automatically integrating relevant public databases.

Laboratory Setup: Full consultation
Workflow Integration: SOPs, IVD/RUO reagents, and staff training
Bioinformatics: Complete software suite for sample management and automated report generation

Platform

illumina or Salus SBS sequencing system

Sample Type

gDNA from blood, CVS, amniotic fluid, cord blood/tissue, product of conception, etc.

Operation Time

Library preparation: total 23.5 hours (Include 16 hours overnight capture)

Automation

Yes

Coverage

Targeting protein-coding regions, pathogenicity-defined intronic and regulatory regions, RefSeq regions, and the mitochondrial genome

Resources

Brochure

References:

1. Ng SB, Turner EH, Robertson PD, et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature. 2009;461(7261):272-276.

2. Choi M, Scholl UI, Ji W, et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A. 2009;106(45):19096-19101.

3. Zhang K, Yu L, Lin G, Li J. A multi-laboratory assessment of clinical exome sequencing for detection of hereditary disease variants: 4441 ClinVar variants for clinical genomic test development and validation. Clin Chim Acta. 2022;535:99-107.