Approaches to long-read sequencing in a clinical setting to improve diagnostic rate.

ABSTRACT: Over the past decade, advances in genetic testing, particularly the advent of next-generation sequencing, have led to a paradigm shift in the diagnosis of molecular diseases and disorders. Despite our present collective ability to interrogate more than 90% of the human genome, portions of the genome have eluded us, resulting in stagnation of diagnostic yield with existing methodologies. Here we show how application of a new technology, long-read sequencing, has the potential to improve molecular diagnostic rates. Whole genome sequencing by long reads was able to cover 98% of next-generation sequencing dead zones, which are areas of the genome that are not interpretable by conventional industry-standard short-read sequencing. Through the ability of long-read sequencing to unambiguously call

SUBMITTER: Sanford Kobayashi E 

PROVIDER: S-EPMC9548499 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature