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- W2927281014 abstract "Abstract Once a suitable reference sequence is generated, genomic differences within a species are often assessed by re-sequencing. Variant calling processes can reveal all differences between two strains, accessions, genotypes, or individuals. These variants can be enriched with predictions about their functional implications based on available structural annotations i.e. gene models. Although these functional impact predictions on a per variant basis are often accurate, some challenging cases require the simultaneous incorporation of multiple adjacent variants into this prediction process. Examples are neighboring variants which modify each others’ functional impact. Neighborhood-Aware Variant Impact Predictor (NAVIP) considers all variants within a given protein coding sequence when predicting the functional consequences. As a proof of concept, variants between the Arabidopsis thaliana accessions Columbia-0 and Niederzenz-1 were annotated. NAVIP is freely available on github: https://github.com/bpucker/NAVIP ." @default.
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- W2927281014 date "2019-04-04" @default.
- W2927281014 modified "2023-09-23" @default.
- W2927281014 title "Influence of neighboring small sequence variants on functional impact prediction" @default.
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- W2927281014 doi "https://doi.org/10.1101/596718" @default.
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