Exome sequencing is an efficient strategy to selectively sequence the coding regions of the genome as a less expensive but still effective alternative to whole genome sequencing. The human exome contains about 180,000 exons. These constitute about 1% of the human genome or about 30 megabases.
The goal of this approach is to identify the functional variation that is responsible for both mendelian and common diseases without the high costs associated with whole-genome sequencing while maintaining high coverage in sequence depth.
Our Comprehensive Service
LC Sciences provides a one-stop solution (i.e. from sample to data) exome sequencing service which combines Illumina Nextera target enrichment and HiSeq 2000/2500 next-gen sequencing for the identification of coding variants.
This service is comprehensive – from sample to data, providing advanced technology and years of experience in next-gen sequencing applications.
Our comprehensive service includes:
- Sample QC
- Exome capture (Nextera Rapid Capture Exome or Expanded Exome Kits)
- Library preparation
- High-throughput sequencing (Illumina next-gen sequencing technology)
- Bioinformatics analysis
- Customer data report
Data Analysis / Results
For each sample analyzed, the customer receives:
- Illumina’s base calling and de-multiplexing
- Assessment of sequencing and quality filtering of “junk” and low quality reads
- Mapping reads to reference sequence database(s)
- Performing on-target and coverage statistic analysis
- Generating variant report including variant coordinates, base pair changes (small SNPs and InDels), dbSNP and coding region information
- SNPs and small InDels annotations
- Customer data report – includes a summary of methods and all statistic analysis