Article

Validation of predicted mRNA splicing mutations using high-throughput transcriptome data

2014-04-07

Abstract excerpt

Interpretation of variants present in complete genomes or exomes reveals numerous sequence changes, only a fraction of which are likely to be pathogenic. Mutations have been traditionally inferred from allele frequencies and inheritance patterns in such data. Variants predicted to alter mRNA splicing can be validated by manual inspection of transcriptome sequencing data, however this approach is intractable for la...

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Literature Corpus work: 2385ea0d-1444-51aa-8c55-447761517ace
DOI: 10.12688/f1000research.3-8.v2

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