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

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

<h4>Background</h4>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 sp...

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Bibliographic Details
Main Authors: Gavin R Oliver, Xiaojia Tang, Laura E Schultz-Rogers, Noemi Vidal-Folch, W Garrett Jenkinson, Tanya L Schwab, Krutika Gaonkar, Margot A Cousin, Asha Nair, Shubham Basu, Pritha Chanana, Devin Oglesbee, Eric W Klee
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2019-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0223337

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https://doi.org/10.1371/journal.pone.0223337

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