Enhancing Molecular Testing for Effective Delivery of Actionable Gene Diagnostics.

ABSTRACT: There is a deep need to navigate within our genomic data to find, understand and pave the way for disease-specific treatments, as the clinical diagnostic journey provides only limited guidance. The human genome is enclosed in every nucleated cell, and yet at the single-cell resolution many unanswered questions remain, as most of the sequencing techniques use a bulk approach. Therefore, heterogeneity, mosaicism and many complex structural variants remain partially uncovered. As a conceptual approach, nanopore-based sequencing holds the promise of being a single-molecule-based, long-read and high-resolution technique, with the ability of uncovering the nucleic acid sequence and methylation almost in real time. A key limiting factor of current clinical genetics is the deciphering of key disea

SUBMITTER: Kovacs AF 

PROVIDER: S-EPMC9774983 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature