Exome sequencing is an efficient strategy to selectively sequence the coding regions of the genome.
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. Thus, exome sequencing is a less expensive but still effective alternative to whole genome sequencing.
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Sample QC
Exome capture (SureSelect Human All Exon V6 kit)
Library preparation
High-throughput sequencing (Illumina next-gen sequencing technology)
Bioinformatics analysis
Customer data report
In-Depth Data Analysis Includes:
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
