Article
Detection of aberrant events in RNA sequencing data
2020-01-03
Abstract excerpt
<title>Abstract</title> <p><bold>RNA sequencing (RNA-seq) has emerged as a powerful approach to discover disease-causing gene regulatory defects for individuals affected with a genetically undiagnosed rare disorder. Pioneer studies have shown that RNA-seq could increase diagnostic rates over DNA sequencing alone by 8% to 36 % depending on disease entities and probed tissues. To accelerate the adoption of RNA-seq...
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Identifiers and source
- Literature Corpus work
- 9dfe97e3-0fcd-57ae-b090-885adc0151e3
- DOI
- 10.21203/rs.2.19080/v1
