A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.

ABSTRACT:

Background

RNA sequencing has been proposed as a means of increasing diagnostic rates in studies of undiagnosed rare inherited disease. Recent studies have reported diagnostic improvements in the range of 7.5-35% by profiling splicing, gene expression quantification and allele specific expression. To-date however, no study has systematically assessed the presence of gene-fusion transcripts in cases of germline disease. Fusion transcripts are routinely identified in cancer studies and are increasingly recognized as having diagnostic, prognostic or therapeutic relevance. Isolated reports exist of fusion transcripts being detected in cases of developmental and neurological phenotypes, and thus, systematic application of fusion detection to germline conditions may further increase diag

SUBMITTER: Oliver GR 

PROVIDER: S-EPMC6774566 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature