Whole Genome Sequencing (WGS)
WGS provides a complete view of the genome, covering coding and non-coding regions — exons, introns, promoters, intergenic areas, and non-coding RNAs (lncRNAs, miRNAs, snoRNAs). It detects SNVs, InDels, CNVs, and gene fusions, offering a comprehensive understanding of genetic alterations.
Applications
- Studies involving transcriptional regulation via non-coding elements.
- Identification of structural variations and genome-wide rare variants.
- Discovery-based research where unbiased coverage is critical.
Our Edge
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We combine high-throughput sequencing with our in-house scalable BI analysis pipelines to manage the
massive data volumes from WGS. TWINE enables comparative genomics, large cohort studies, and
clinical-grade variant prioritization without manual bottlenecks.
Whole Exome Sequencing & Data Analysis
WES targets the ~1–2% of the genome that encodes proteins (exons). This region harbors the majority of clinically relevant variants, including single nucleotide variants (SNVs) and insertions/deletions (InDels) that can disrupt tumor suppressors, oncogenes, or rare disease genes.
Applications
- Detects both germline and somatic disease-causing mutations..
- Identifies mutational burden in cancer.
- Can be expanded with intronic, promoter, splice junction, and mitochondrial regions for greater functional insight.
Our Edge
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WES at Bencos is cost-effective and optimized for clinical reporting, with seamless integration into TWINE
BI pipelines for variant annotation, filtering, and AI-based flagging.This ensures scalable analysis
across large cohorts with reproducible results.
Whole Genome Bisulfite Sequencing (WGBS)
WGBS enables genome-wide profiling of DNA methylation at single-base resolution. Methylation of CpG sites, especially in CpG islands and shores, have a complex and vital regulatory role in gene expression. By bisulfite conversion, unmethylated cytosines convert to thymines, while methylated cytosines remain unchanged - allowing precise mapping of methylation landscapes. This tightly regulated system, if disturbed, can cause dysregulated transcription, such as the case observed in cancer conditions.
Applications
- Identifying epigenetic drivers of cancer and developmental disorders.
- Comparing differential methylation between healthy and disease states.
- Integrating methylation data with transcriptomic or genomic data for multi-omics research.
Our Edge
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Through TWINE , we provide specialized epigenomic analysis pipelines, enabling researchers to scale
methylation profiling, annotation of regulatory elements, and integrative multi-omics analysis across
large datasets.
Transcriptome Sequencing & Analysis (RNA-seq)
RNA-seq captures the dynamic landscape of gene expression in human tissues, offering insights into how genetic variation translates into function. By profiling the transcriptome, RNA-seq detects aberrant expression, alternative splicing, and fusion transcripts that often drive disease onset and progression.
Applications
- Identify aberrant expression and splicing defects missed by DNA sequencing alone.
- Detect gene fusions, quantify mutational impact on expression, and assess tumor microenvironment signals.
- Stratify patients based on gene expression profiles for targeted therapies.
Our Edge
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At Bencos, RNA-seq analysis is optimized for clinical and translational research using our TWINE BI
pipelines. We deliver:
Accurate quantification of gene and transcript expression.
Fusion and splicing detection for cancer and rare disease insights.
AI-driven prioritization and flagging for clinically relevant transcripts.
Scalable workflows capable of handling large patient cohorts with reproducible outputs.
Custom Sequencing Panels
Are you working on specific disease conditions with a gene-list in mind? Our custom panel curation allows you to sequence only the genes and genomic regions of interest. For projects targeting a specific gene list or pathway, custom panel sequencing provides a cost-effective, focused solution. Either opt for our fixed disease-specific DNA/RNA gene panels or curate your own, we will deliver!
Applications
- Disease-specific panels (e.g., oncology, neurology, inherited diseases).
- Research-driven custom panels tailored to your study.
Our Edge
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Beyond panel design and sequencing, TWINE enables customized bioinformatics workflows tuned to your panel,
allowing you to scale from targeted discovery to clinical-grade interpretation seamlessly.
With bioinformatics at the core, we ensure that every dataset is not just sequenced, but also analyzed,
interpreted, and reported with precision, scalability, and reproducibility.
Consultation & Ongoing Support
Not sure which sequencing strategy fits your project? Our experts provide pre-project consultation on library prep, enrichment, and analysis approaches, and continue to support you throughout the workflow.
With bioinformatics at the core, we ensure that every dataset is not just sequenced, but also analyzed, interpreted, and reported with precision, scalability, and reproducibility.