Bioinformatics in Clinical Genomic Sequencing

With the onset of high-throughput sequencing technologies, molecular genetic pathology has emerged from  a visual-based specialty to an informatics-driven specialty. The increasing capabilities and reduced costs of sequencers, data computation, and data storage have enabled large-scaled sequencing (exomes and genomes) to be accessible to a wide range of patients. These include diagnosis of rare gene tic conditions, in depth analysis of tumor–normal pairs, and screening of ostensibly healthy individuals.
Source: Clinics in Laboratory Medicine - Category: Laboratory Medicine Authors: Source Type: research