During the past decade, the search for pathogenic mutations in rare human genetic diseases has involved huge efforts to sequence coding regions, or the entire genome, using massively parallel short-read sequencers. However, the approximate current diagnostic rate is <50% using these approaches, and there remain many rare genetic diseases with unknown cause. may be reasons for this, but one plausible explanation is that the responsible mutations are in regions of genome difficult to sequence conventional technologies (e.g., tandem-repeat expansion or complex chromosomal structural aberrations). despite drawbacks high cost a shortage standard analytical methods, several studies have analyzed pathogenic changes long-read sequencers. results provide hope further application sequencers identify causative unsolved expand our understanding human diseases. such approaches also applied molecular diagnosis therapeutic strategies patients future.
Journal: Journal of human genetics
DOI: 10.1038/s10038-019-0671-8
Year: 2019