Illumina Novaseq 6000

Whole Exome Sequencing

Designed for deeper coverage & precise diagnosis.

SNV/Indels & CNV
Artificial Intelligence & machine learning powers improved SNV/Indels & CNV detection
7Gb-10Gb Sequencing data
Uniform coverage with a mean depth of >80-100X. 7Gb-10Gb data/sample
Comprehensive panel design
Covers >20,250 Genes with protein-coding regions, several non-coding variants & intron-exon boundaries. Covers all 16,659 base pairs & 37 genes of the mitochondrial genome

Visualize SN Gene’s Whole Exome Sequencing .bed files using IGV tool.

Spiked coverage over noncoding regions that are known to carry pathogenic or likely pathogenic variants enhances our exome panel’s discovery power.

High Performance Exome Built on Advanced and Proven Technology

The complete genomic information within individual is known as the whole genome. Exons are the genome’s protein-coding regions and are collectively known as the exome. Whole Exome Sequencing assay is a widely used method that involves sequencing the complete coding region of the genome.

It is designed to examine all the coding regions and splice junctions of the genome. Exome sequencing using exome enrichment can efficiently identify coding variants (SNVs/Indels/CNVs)across a broad range of applications, including population genetics, genetic disease, and cancer studies.

When looking for an answer, something to explain the underlying cause of a disease, researchers often turn to the genome. With more than 3.2 billion bases in the human genome, the first and most financially viable step is to narrow the search to portions most likely to be informative.

To do this, researchers can extract specific portions of the genome for sequencing with target enrichment panels. Picking the right panel is key to collecting quality, informative data. Researchers have two options at this stage: small and targeted panels (Clinical exome) or whole exome panels.

Say hello to World's Most powerful sequencer- Illumina NovaSeq 6000 system.
The addition of ‘Illumina NovaSeq 6000’ sequencing system to SN GeneLab’s NGS portfolio at National Reference Lab in surat has opened gate to broad, deep sequencing for groundbreaking discoveries.
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Illumina Novaseq 6000 at SN Genelab.

Maximum coverage

Complete new design that maximizes coverage of clinically relevant regions from the ClinVar database while including updated coverage of protein-coding regions from CCDS, RefSeq and GENCODE.

Mitochondrial genome

Covers all 16,659 base pairs & 37 genes of the mitochondrial genome. Sequencing depth optimized for Heteroplasmy detection.

36.5 Mb target region

This exome panel spans a 36.5 Mb target region of the human genome. The panel delivers excellent enrichment performance for more uniform coverage, lower GC bias, meaning this panel can help detect complex targets containing high, or low, levels of GC content.

Designed for Deep coverage across all targets

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Most commercially available exome panels cover nearly all gene-coding sequences in the genome But, one key and critical differentiating factor is how deeply they cover specific genes. While some whole-exome panels focus on providing particularly deep coverage over genes that are relevant to cancer development, inherited disorders, or other such conditions, this panel provides deep coverage over all genes that have been linked to clinical phenotypes, enabling translational research on a wide range of conditions.

Who benefits from Whole Exome Sequencing?

Complex phenotypes with multiple differential diagnoses.
Genetically heterogeneous disorders.
Suspected genetic disorders where a specific genetic test is not available.
Inconclusive previous genetic testing.
To guide reproductive planning and assessment of recurrence risk.
To facilitate prognosis.
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Bioinformatics & Databases

Bioinformatics pipelines backed by Artificial Intelligence & Machine Learning algorithms

Enabling actionable insights in precision medicine & rare disease diagnosis through state of the art bioinformatics infrastructure.

SN GeneLab

NABL accredited, dedicated genomics facility for Oncology, Rare Diseases & Reproductive health.

India's only exclusive genomics facility
“It’s our commitment to genomics, SN Genelab stands as India’s sole exclusive genomics laboratory.”
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State of the art Technologies
Equipped with latest technologies in genomics including Next Generation Sequencers, Microarray systems, Droplet Digital PCR, Real Time PCRs, Automated karyotyping etc…
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India’s genomics institution with a global footprints.
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