Article

Mapping RNA splicing variations in clinically-accessible and non-accessible tissues to facilitate Mendelian disease diagnosis using RNA-seq

2019-08-06

Abstract excerpt

<h4>Purpose</h4> RNA-seq is a promising approach to improve diagnoses by detecting pathogenic aberrations in RNA splicing that are missed by DNA sequencing. RNA-seq is typically performed on clinically-accessible tissues (CATs) from blood and skin. RNA tissue-specificity makes it difficult to identify aberrations in relevant but non-accessible tissues (non-CATs). We determined how RNA-seq from CATs represent spli...

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Literature Corpus work: 4b220d74-1332-5516-89ae-95f8360b2e65
DOI: 10.1101/727586

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