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Validation of new bioinformatic tools to identify expanded repeats: a non-reference intronic pentamer expansion in <i>RFC1</i> causes CANVAS

2019-04-04

Abstract excerpt

<h4>ABSTRACT</h4> Genomic technologies such as Next Generation Sequencing (NGS) are revolutionizing molecular diagnostics and clinical medicine. However, these approaches have proven inefficient at identifying pathogenic repeat expansions. Here, we apply a collection of bioinformatics tools that can be utilized to identify either known or novel expanded repeat sequences in NGS data. We performed genetic studies o...

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Literature Corpus work
e0a0905d-8cc3-5be7-8d6a-b627355a36ef
DOI
10.1101/597781
Open publication

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Validation of new bioinformatic tools to identify expanded repeats: a non-reference intronic pentamer expansion in <i>RFC1</i> causes CANVASDOI 10.1101/597781
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