Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes.

ABSTRACT: Innovations in sequencing technology have led to the discovery of novel mutations that cause inherited diseases. However, many patients with suspected genetic diseases remain undiagnosed. Long-read sequencing technologies are expected to significantly improve the diagnostic rate by overcoming the limitations of short-read sequencing. In addition, Oxford Nanopore Technologies (ONT) offers adaptive sampling and computationally driven target enrichment technology. This enables more affordable intensive analysis of target gene regions compared to standard non-selective long-read sequencing. In this study, we developed an efficient computational workflow for target adaptive sampling long-read sequencing (TAS-LRS) and evaluated it through application to 33 genomes collected from suspected heredi

SUBMITTER: Nakamura W 

PROVIDER: S-EPMC10874402 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature