This special issue of Human Mutation focuses on Innovations in Genomic Diagnostics. The increasing interest in genomic medicine, and the growing possibilities for treatment and management of genetic disease, make complete and accurate diagnosis mission critical. This issue describes leading-edge technologies with emerging utility for genomic diagnostics. Genomic testing has dramatically evolved as a result of advances in technology, data analytics, and the continuing pace of disease gene discovery. Since 2011, clinical laboratories have increasingly employed next-generation sequencing-based tests in addition to historical techniques to identify a spectrum of germline and somatic variants implicated in human disease. However, common testing platforms have known limitations, including failure to detect disease-causing variants in certain regions, inability to identify all variant types, variant phasing, measuring epigenetic changes, and ongoing challenges with variant interpretation. Innovative solutions are emerging, including increasingly rapid genome sequencing, long-read sequencing, clinical RNA sequencing, epigenomic profiling, facial phenotyping, and an array of computational tools for variant identification and interpretation.
Keywords: RNA sequencing; cancer genomics; clinical bioinformatics; clinical epigenomics; cytogenomics; genome sequencing; long-read sequencing.
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