Variants in exome account for 85% of known disease variants. This makes exome sequencing one of the most popular targeted sequencing approach to study genetic disease variants, cancer biomarker and population studies. Exome accounts for just a 2% of total genome size that makes it easier to generate a comprehensive sequencing coverage for variant identification.
Focused exome sequencing approach can enable research teams to make optimal use of resources for genetic variation detection towards a causal phenotype. Exome Sequencing provides a cost and time effective alternate to whole genome sequencing. Exome Sequencing is fast, cost effective and generates a smaller sized data for quick analysis. Human exome sequencing generated about 5 Gb of data as compared to 90Gb per whole genome. Over streamlines exome sequencing data analysis pipelines can process a sample within hours and multiple samples per day.
Whole Exome Sequencing
Exome Sequencing Data Analysis
Why chose our Exome Sequencing Services?
- Top quality sequencing data generated on Illumina HiSeq instruments.
- Customized pipelines for reliable and sensitive detection of coding variants – SNPs and INDELS.
- Team of experts handles your exome sequencing data.
- Cost effective and quick turnover time.
Exome Seq Data Analysis
- Robust Exome sequencing data analysis pipelines to identify SNPs, INDELS, CNV and other structural variants from your exome sequencing datasets.
- Tailored whole exome sequencing data analysis and reporting for your research projects.
- Accurate and reliable exome sequencing data analysis for genetic testing that modern day clinicians depend on.
- Disease panel sequencing analysis for biomarker identification and discovery.
Exome Seq Data Analysis Overview
Here is a peek at our exome sequencing data analysis pipeline. We have optimised various tools and parameters to detect SNPs, INDELS and CNVs in your exome sequencing data.
Whole Exome Sequencing Service Deliverables
Genome exome sequencing report that includes details of data quality, data analysis workflow, read alignment statistics and SNP and Indel discovered
Whole exome sequencing reads alignment files – BAM / SAM files
Whole exome sequencing Variant calls – VCF format
