DrSeq Exome Sequencing
DrSeq Exome Sequencing Service-Advancing Genomics with Unparalleled Precision
Welcome to Nucleome Informatics, where cutting-edge genomics research meets excellence in Exome Sequencing. We are thrilled to present our latest innovation, the DrSeq Exome Sequencing Service, designed to empower researchers with unprecedented insights into the human genome.
As India’s most trusted brand in genomics, we are committed to delivering top-notch solutions tailored to your specific research needs.
Unleashing the Power of DrSeq Exome Sequencing
At Nucleome Informatics, we understand the importance of unraveling the mysteries hidden within the protein-coding region of the human genome – the key to understanding disease-related variants. DrSeq Exome Sequencing is our state-of-the-art service, offering a cost-effective and comprehensive solution to accelerate your genomics studies.
Why Choose DrSeq Exome Sequencing Service?
- Comprehensive Coverage: DrSeq Exome Sequencing is carefully engineered to capture the entire protein-coding region of the human genome.
- High-Quality Data: We employ the Roche Kapa Hyper Exome Kit and Illumina NovaSeq 6000 to ensure exceptional sequencing quality.
Exome Sequencing Applications
- SNV/Indels Discovery: Identify Single Nucleotide Variants (SNVs) and small insertions/deletions (Indels).
- Copy Number Variation Discovery: Explore copy number variations (CNVs) and disease-associated genomic changes.
- Trio Analysis: Investigate Mendelian inheritance patterns and hereditary diseases.
Exome Capture Kits
Introducing the KAPA HyperExome Probes: Roche’s Advanced Whole Exome Sequencing Solution
Developed by Roche, this cutting-edge solution incorporates next-generation KAPA Target Enrichment Probe technology. The KAPA HyperExome Probes offer broad and relevant database coverage, enhanced sequencing efficiency, and increased coverage in hard-to-sequence regions.Features and Benefits of KAPA HyperExome Probes
- Uncover difficult regions and access more content from essential genomic databases.
- Validated with the KAPA HyperCap Workflow v3.0.
- Achieve >98.7% sensitivity and >99.7% specificity of SNP detection.
- Strengthened enrichment by high fidelity probes manufactured with KAPA HiFi DNA Polymerase.
- Intrinsically target 387 sample tracking SNPs.
Data Analysis: Unveiling Insights with Precision
Standard Data Analysis Includes
- Variant Calling (SNPs/InDels) & Annotation.
Advanced Data Analysis Includes
- CNV (Copy Number Variation) Analysis.
- Various Variant Calling Pipelines.
- Cancer Analysis / Family Analysis / Population Analysis.
Custom Sequencing and Bioinformatics Analysis
Our experts perform data QC, mapping with the reference genome, SNP/InDel calling, statistics, and annotation to unlock the full potential of your data.Special Panel Development: Advancing Genomics Research in India
Our commitment to advancing genomics research in India is exemplified by our ongoing development of a specialized panel for Inherited Retinal Diseases.Sample Conditions
- DNA amount: 1μg or more, volume: 20μl or more, concentration: 20ng/μl or more
- FFPE amount: 1.5μg or more