Article

Comparison of in Silico Strategies to Prioritize Rare Genomic Variants Impacting RNA Splicing for the Diagnosis of Genomic Disorders

2021-03-22

Abstract excerpt

The development of computational methods to assess pathogenicity of pre-messenger RNA splicing variants is critical for diagnosis of human disease. We assessed the capability of eight algorithms, and a consensus approach, to prioritize 250 variants of uncertain significance (VUSs) that underwent splicing functional analyses. It is the capability of algorithms to differentiate VUSs away from the immediate splice si...

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Literature Corpus work: ec0957e9-242e-5d6c-9152-ca3427dfe0d8
DOI: 10.21203/rs.3.rs-311579/v1

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