Variant Analysis

Genome / Exome Analysis

Variant analysis focuses on identification of mutations in DNA from genome, exome, or targeted sequencing data. We are capable of analyzing NGS data produced from a variety of HTS platforms such as Illumina, Ion Torrent, etc.



To begin our analysis, we perform an initial quality check of the raw data. This provides insight into the tools and steps that will be taken during the quality control (QC) portion of our analysis. The reads are then aligned to a reference genome. Additional processing steps following the initial alignment prepare the data for variant calling. Variants are called, based on the needs of the project, and are then filtered and annotated. Annotation involves adding biological information to the high quality variants for downstream analysis.

            Our downstream analysis of the data is tailored to meet your specific research needs. We will provide results appropriate to the study, whether the data is from a population, pedigree, or paired normal-tumor samples.


Cancer Gene Panels

            We also support variant analysis using cancer gene panels (for research purposes). Cancer panels are used to target mutations in cancer-associated genes. We are able to analyze data from hotspot panels or comprehensive cancer panels. Our downstream analysis of cancer gene panels allows us to produce easy to interpret, customizable reports that provide information for detected mutations that support clinical research from the published literature and other reference sources.