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

Gavin R OliverXiaojia TangLaura E Schultz-RogersNoemi Vidal-FolchW Garrett JenkinsonTanya L SchwabKrutika GaonkarMargot A CousinAsha NairShubham BasuPritha ChananaDevin OglesbeeEric W Klee

Published in: PloS one (2019)

The approach we describe can be implemented to enable the detection of phenotypically relevant fusion transcripts in studies of rare inherited disease. Fusion transcript detection has the potential to increase diagnostic rates in rare inherited disease and should be included in RNA-based analytical pipelines aimed at genetic diagnosis.

Keyphrases

loop mediated isothermal amplification
gene expression
real time pcr
genome wide
copy number