%0 Journal Article %1 Baasner596718 %A Baasner, Jan-Simon %A Howard, Dakota %A Pucker, Boas %D 2019 %I Cold Spring Harbor Laboratory %J bioRxiv %K annotation genomics myown variants %R 10.1101/596718 %T Influence of neighboring small sequence variants on functional impact prediction %U https://www.biorxiv.org/content/early/2019/04/04/596718 %X 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. Although these 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. NAVIP is freely available on github: https://github.com/bpucker/NAVIP.

@article{Baasner596718, 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. Although these 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{\textquoteright} functional impact. Neighborhood-Aware Variant Impact Predictor (NAVIP) considers all variants within a given protein coding sequence when predicting the functional consequences. NAVIP is freely available on github: https://github.com/bpucker/NAVIP.}, added-at = {2019-06-02T10:23:35.000+0200}, author = {Baasner, Jan-Simon and Howard, Dakota and Pucker, Boas}, biburl = {https://www.bibsonomy.org/bibtex/20f607f7da71a847a93d38c8863018b58/bpucker}, description = {Influence of neighboring small sequence variants on functional impact prediction | bioRxiv}, doi = {10.1101/596718}, elocation-id = {596718}, eprint = {https://www.biorxiv.org/content/early/2019/04/04/596718.full.pdf}, interhash = {ef79facad3f7d7756b6e1db07cb2bc39}, intrahash = {0f607f7da71a847a93d38c8863018b58}, journal = {bioRxiv}, keywords = {annotation genomics myown variants}, publisher = {Cold Spring Harbor Laboratory}, timestamp = {2019-06-02T10:23:35.000+0200}, title = {Influence of neighboring small sequence variants on functional impact prediction}, url = {https://www.biorxiv.org/content/early/2019/04/04/596718}, year = 2019 }