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🧬 What You Get

Send us your WGS, exome, or targeted panel sequencing data. We'll deliver a complete variant analysis with annotated VCF files, filterable variant tables, and coverage reports—everything you need to identify and interpret the variants in your samples.

Our pipeline handles alignment, variant calling, and functional annotation, delivering results you can confidently use for downstream analysis or clinical interpretation.

Ideal For

Whole genome, exome, or targeted panel sequencing studies requiring comprehensive variant identification, annotation, and interpretation.

📊 Data Types Supported

WGS

Whole genome

WES

Whole exome

Panels

Targeted capture

⚡ How It Works

1

Upload

FASTQ/BAM files

2

Align

Reference mapping

3

Call

Variant detection

4

Annotate

Gene & impact

🔬 Analysis Includes

✓ Read alignment & deduplication
✓ SNV & indel calling
✓ Quality-based filtration
✓ Gene & transcript annotation
✓ Population frequency (gnomAD)
✓ Pathogenicity prediction
✓ Coverage analysis
✓ Variant effect classification

📦 What You'll Receive

📄

Annotated VCF

Full variant annotations

📋

Variant Tables

Filterable Excel/CSV

📊

Coverage Plots

Depth across targets

📈

Variant Spectrum

Mutation type breakdown

🧬

Gene Summary

Variants by gene

📝

QC Report

Alignment & calling stats

🎯 Common Use Cases

Rare disease research Cancer genomics Population genetics Carrier screening Pharmacogenomics Family trio analysis Tumor-normal comparison Gene panel validation