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Whole exome analysis
Expert-led secondary analysis delivering high-fidelity variant detection and deep functional annotation — GATK gold-standard workflows and multi-caller consensus filtering, managed directly by the computational team.
GATK
gold-standard best practices
0 callers
Mutect2, Strelka2 & VarDict consensus
hg19 / hg38
reference assemblies supported
AWS
scalable encrypted cloud
Scalable bioinformatics solutions
From high-volume population cohorts to rare somatic mutations — tiered analysis models turn exome data into high-confidence, publication-ready insight.
Rapid, automated analysis for high-volume genomic research.
Best for high-throughput germline screening and standard cohort studies.
Request this serviceDeep-dive genomic profiling for complex mutational landscapes. Includes everything in Standard, plus:
Best for tumor-normal studies, somatic driver discovery and translational research.
Request this serviceTailored bioinformatics outputs built for your specific project.
Best for specialized study designs and custom filtering strategies.
Request this serviceDedicated computational experts for long-term analysis needs.
Best for pharma and biotech teams with sustained analysis volume.
Request this serviceThe Gateway advantage
Industry-validated GATK Best Practices for alignment and variant calling — the highest bar for sensitivity and reproducibility.
Mutect2, Strelka2 and VarDict consensus minimizes false positives for the most robust SNV and indel sets.
Every variant enriched with ClinVar, gnomAD and COSMIC context to prioritize high-impact mutations fast.
No black box — all primary and secondary data including FASTQ, aligned BAM and filtered VCF for complete auditability.
Secure AWS-powered infrastructure processes hundreds of exomes simultaneously without compromising depth.
Skip the ticketing system — work directly with the bioinformatics team on filtering parameters or custom workflows.
Processing workflow
Step 1
Define analysis goals — from germline screening to somatic driver identification.
Step 2
Upload FASTQ from any Illumina platform via encrypted SFTP or AWS S3 transfer.
Step 3
Validated pipelines with rigorous per-sample and per-batch quality metrics.
Step 4
Expert-led functional annotation and filtering to isolate high-interest variants.
Step 5
Complete data package with publication-ready visualizations and comprehensive PDF summaries.
Beyond the FASTQ
All analysis outputs based on the package chosen — BAM, VCF and more — plus a publication-ready report.
Deliverables include
SNV & indel distribution
Somatic variant analysis
CNV & structural events
Publication-ready figures
SNV & indel distribution
Somatic variant analysis
CNV & structural events
Publication-ready figures
Aligned BAM files
Germline & somatic VCF
Joint genotyping & gVCF
Tumor mutational burden (TMB)
Aligned BAM files
Germline & somatic VCF
Joint genotyping & gVCF
Tumor mutational burden (TMB)
Figures & files delivered with every project — hover to pause
Applications
Detect somatic variants and driver mutations.
Understand how genetic variation impacts drug response.
Large-scale cohort studies for genomic discovery.
Identify inherited and acquired genetic variations.
Focus on protein-coding regions where most disease-associated variants occur.
Identify causative mutations in complex phenotypes.
FAQs
Resources & insights
Explore related sequencing solutions
Tell us about your data and research goals — a PhD scientist replies within one business day with the right analysis workflow and a tailored quote.
Share your samples and goals — a doctoral-level scientist responds within one business day with a study plan and competing blind quotes.
Administered by Syntax of Life Private Limited
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