With a growing number of targeted exome capture solutions being integrated into the next-generation sequencing workflow, targeted exome analysis has become the go-to and cost-effective approach for obtaining sequence coverage of protein-coding regions of the genome. As a result, researchers are starting projects with larger populations, with larger, more complicated datasets. One reason targeted exome capture is gaining steam is because whole-genome sequencing is still cost prohibitive for most researchers.
To support this important methodology we have added Exome Analysis to our repertoire of analyses tools. With the DNAnexus Exome Analysis method, we’ve simplified a critical step in the processing and analysis of these datasets. Using this analysis you can quickly analyze exome sequence data by determining whether regions of interest have been sequenced with sufficient coverage to allow for further analyses.
For each exon, DNAnexus reports on the number and fraction of bases covered by sequence reads, along with the average coverage within the exon. Exons that are overlapping genes in a gene annotation track are labeled with the gene name to allow for easy follow-on searching for exons from a gene of interest.