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Variant functional detection software tools | High-throughput sequencing data analysis

Modern sequencing technologies produce increasingly detailed data on genomic variation. However, conventional methods for relating either individual variants or mutated genes to phenotypes present known limitations given the complex, multigenic nature of many diseases or traits.

Source text:
(Hernansaiz-Ballesteros et al., 2015) Assessing the impact of mutations found in next generation sequencing data over human signaling pathways. Nucleic Acids Res.

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