Article

Functional and <i>in-silico</i> interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

2019-09-26

Abstract excerpt

<h4>Purpose</h4> To develop a comprehensive analysis framework to identify pre-messenger RNA splicing mutations in the context of rare disease. <h4>Methods</h4> We assessed ‘variants of uncertain significance’ through six in-silico prioritization strategies. Firstly, through comparison to functional analyses, we determined the precise effect on splicing of variants identified through clinical multi-disciplinary...

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Literature Corpus work: d7fd321a-4ba9-564d-a668-d4bcff784999
DOI: 10.1101/781088

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