Exome sequencing (also known as targeted exome capture) is an efficient strategy to selectively sequence the coding regions of the genome, which utilizes target enrichment strategy, as a cheaper but still effective alternative to whole genome sequencing. Target region sequencing utilizes similar strategy which involves isolation of genomic regions of interest in a sample library, enabling cost effective and systematic detection of germline and somatic variants.
Exome and Target Region Sequencing Features and Benefits: Targeted - focus on the regions of exome of interest. Cost effective - much lower cost for narrowed region sequencing. Precise - extremely high depth on the focused candidate sites or genes.
Exome and Target Region Sequencing Applications: Resequencing of exomic regions Polygenic disease studies Genetic marker development Large genomic loci resequencing Resequencing of candidate gene sets Metabolic pathway studies
CD Genomics Exome and Target Region Sequencing Service include: Raw data as FASTQ files Base calling and demultiplexing Alignment to reference sequence On-target and coverage statistics Annotated SNPs and small InDels