Bioinformatics in Clinical Genomic Sequencing.

Clinical bioinformatics encompasses generating raw sequence data from the machine through identifying reportable variants. Throughout the process, important quality control metrics are tracked based on the data, including the completeness of coverage across the region of interest for the assay. The process starts by taking raw sequence data, aligning it to a reference genome, and identifying variants based on the quality of the reads and the base pair calls. Variants are then annotated and filtered using a variety of features, including gene, transcript, Human Genome Variation Society nomenclature, population frequency, and presence in databases. In a clinical setting, a thorough validation of each of the components of the bioinformatics pipeline is critical, as is a detailed understanding of infrastructure, privacy, and security requirements.