Why Choose Human and Mouse Whole Exome Sequencing?

Whole Exome Sequencing (WES) targets the protein-coding regions (exons), which comprise only 1–2% of the genome but contain the majority of known disease-associated genetic variants. By focusing on these regions, WES provides a cost-effective and efficient alternative to whole genome sequencing while delivering high-value insights into functional mutations.

Whether investigating inherited disorders, cancer genetics, or mouse disease models, WES enables accurate identification of coding variants that influence phenotype and disease progression.

Key Benefits of Whole Exome Sequencing

• • Comprehensive detection of SNVs, InDels, and copy number variations (CNVs) within coding regions.

• • Cost-effective compared to whole genome sequencing, with reduced data complexity.
• • Ideal for human disease studies, cancer research, and mouse model characterization.
• • Supports germline, somatic, and population-based variant analysis.
• • Comprehensive variant annotation using databases such as RefSeq, ClinVar, GENCODE, CCDS, and MANE.

• N2Jenomics Lab Pvt. Ltd. provides customizable Human, Mouse, Plant, and Animal Whole Exome Sequencing services with flexible sequencing depth, platform selection, and bioinformatics analysis tailored to your research objectives.

Our Human and Mouse Exome Sequencing Services

• Human Whole Exome Sequencing

Our Human Whole Exome Sequencing service is based on the GRCh38 reference genome and captures nearly all clinically relevant coding regions. We offer multiple panel options to match diverse research needs.

Core Panel

• - High coverage of protein-coding regions
• - Optimized for routine exome studies

Inherited Disease Panel

• - Includes ClinVar pathogenic variants, mitochondrial DNA, and CNV backbone regions
• - Designed for rare disease research

Cancer Panel

• - Covers more than 600 cancer-associated genes, fusion regions, MSI markers, and HLA loci
• - Suitable for oncology and precision medicine research

- Supported sample types include blood, tissue, and FFPE, with sequencing depths ranging from 100× to 200×.

• Mouse Whole Exome Sequencing

Our Mouse Whole Exome Sequencing service utilizes a high-performance capture panel based on the mm39 reference genome, covering over 38 Mb of coding regions with excellent capture uniformity.

Applications include:

• - Phenotype-to-genotype studies
• - Knockout and transgenic mouse validation
• - Preclinical disease model research
• - Functional genomics and mutation screening

Human and Mouse Exome Sequencing Panels

Sequencing Platforms

We offer both short-read and long-read sequencing technologies to meet different research requirements.

• Illumina NovaSeq & NextSeq

High-throughput short-read sequencing with excellent accuracy for SNV and InDel detection.

• MGI DNBSEQ

Cost-effective sequencing with reliable coverage, suitable for large-scale exome projects.

• Oxford Nanopore PromethION

Long-read sequencing for structural variant detection, gene fusions, splice variants, and GC-rich genomic regions.

• PacBio Revio / Sequel IIe (HiFi)

High-fidelity long reads for accurate phasing, CNV analysis, repeat resolution, and complex genomic regions.

Recommended Sequencing Depth

Exome Capture Strategies

• Hybrid Capture

Target enrichment using optimized probe panels for human and mouse exomes, with custom panel design available for disease-specific or targeted studies.

• Low-Input & FFPE-Compatible Workflow

Optimized library preparation protocols for challenging, degraded, or low-input DNA samples.

Whole Exome Sequencing Workflow

Sample Preparation → DNA Extraction → Library Construction → Exome Capture → High-Throughput Sequencing → Quality Control → Bioinformatics Analysis → Variant Annotation & Reporting

Bioinformatics Data Analysis

Our comprehensive analysis pipeline ensures accurate detection and interpretation of coding variants from both human and mouse exome datasets.

Analysis Includes

• •  Raw data quality assessment and filtering
• • Alignment to GRCh38 (Human) or GRCm39 (Mouse)
• • Duplicate removal and quality score recalibration
• • SNV and InDel identification using industry-standard workflows
• • Functional annotation using Ensembl VEP, ClinVar, OMIM, and gnomAD
• • Rare variant prioritization and pathogenicity prediction
• • Copy number variation (CNV) analysis for high-depth datasets
• • Optional tumour analysis, including somatic variant detection, MSI, and TMB analysis
•  

Technical Process

Advanced Technical Process

Advantages of Our Exome Sequencing Services

Our exome sequencing services are designed to deliver accurate, reliable, and flexible solutions for human and mouse genomics research.

• Dual-Species Expertise

Validated human and mouse exome panels covering over 99% of known coding regions using RefSeq, MANE, and CCDS references.

• Multiple Sequencing Platforms

Support for Illumina and MGI short-read sequencing, along with Oxford Nanopore and PacBio long-read technologies.

• Custom Panel Design

Optional inclusion of HLA regions, CNVs, mitochondrial DNA, and disease-specific target regions.

• High Capture Performance

Excellent exon coverage, high capture uniformity, and sensitive variant detection.

• Low-Input & FFPE Compatible

Optimized workflows for low-input DNA and challenging FFPE samples.

• Comprehensive Bioinformatics

End-to-end analysis including SNV, InDel, CNV detection, functional annotation, and optional MSI/TMB analysis.

Sample Requirements

Note: DNA concentration should preferably be measured using fluorometric methods (Qubit or PicoGreen). If measured using NanoDrop, a higher concentration is recommended.

Accepted Sample Types

We accept a broad range of biological samples and also provide DNA extraction services on request.

Unsure whether your sample is suitable? Our technical team can provide free consultation and sample preparation support.

Project Deliverables

Depending on your project requirements, you will receive:

• • Raw sequencing data (FASTQ)
• • Sequence alignment files (BAM) and variant files (VCF)
• • Quality control, statistical, and annotation reports (PDF & Excel)
• • Graphical summaries and visualization results
• • Complete project documentation and data interpretation guidance

1. Why choose Whole Exome Sequencing (WES) instead of Whole Genome Sequencing (WGS)?

Whole Exome Sequencing targets the protein-coding regions of the genome, where most known disease-associated variants are found. It provides a cost-effective approach for studying functional genetic mutations with lower sequencing costs and simplified data analysis.

2. What is the difference between Human and Mouse Exome Sequencing?

Our Human Exome Sequencing service is based on the GRCh38 reference genome and is ideal for clinical and disease-related studies. Mouse Exome Sequencing uses the GRCm39 reference genome and is optimized for genetic research, functional genomics, and disease model development.

3. What sequencing depth is recommended?

For germline studies, we typically recommend 100×–150× coverage. Tumor, FFPE, or other challenging samples generally require 200× or higher to ensure reliable variant detection.

4. Do you offer long-read exome sequencing?

Yes. We support long-read exome sequencing using Oxford Nanopore and PacBio HiFi platforms for projects involving structural variants, complex genomic regions, or advanced genomic analysis.

5. Can low-input or FFPE samples be sequenced?

Yes. Our optimized library preparation and bioinformatics workflows are designed to maximize data quality from low-input and FFPE-derived DNA samples.

6. Do you accept pre-prepared exome libraries?

Yes. We accept both purified genomic DNA and pre-enriched exome libraries. Library quality assessment is performed before sequencing.

7. What data will I receive?

Standard deliverables include FASTQ, BAM, and VCF files, along with quality control metrics, annotated variant reports, and optional downstream analyses such as CNV, MSI, or pathway analysis.

8. When should I choose WES over WGS?

Whole Exome Sequencing is ideal for identifying coding-region mutations while minimizing sequencing costs and data volume. Whole Genome Sequencing is recommended when non-coding regions, structural variants, or genome-wide analysis are required.