ShAn: An easy-to-use tool for interactive and integrated variant annotation

dc.contributor.authorRathinakannan VS
dc.contributor.authorSchukov HP
dc.contributor.authorHeron S
dc.contributor.authorSchleutker J
dc.contributor.authorSipeky C
dc.contributor.organizationfi=biolääketieteen laitos|en=Institute of Biomedicine|
dc.contributor.organizationfi=tyks, vsshp|en=tyks, varha|
dc.contributor.organization-code1.2.246.10.2458963.20.77952289591
dc.contributor.organization-code2607100
dc.converis.publication-id49258439
dc.converis.urlhttps://research.utu.fi/converis/portal/Publication/49258439
dc.date.accessioned2022-10-28T12:22:45Z
dc.date.available2022-10-28T12:22:45Z
dc.description.abstract<b>Motivation</b><div> Annotation of large amounts of generated sequencing data is a demanding task. Most of the currently available robust annotation tools, like ANNOVAR, are command-line based tools which require a certain degree of programming skills. User-friendly tools for variant annotation of sequencing data with graphical interface are under-represented. </div><div><br /></div><div><b>Results</b></div><div> We have developed an interactive application, which harnesses the easy usability of R Shiny and combines it with the versatile annotation features of ANNOVAR. This application is easy to use and gives comprehensive annotations for user supplied vcf files using multiples databases. The output table contains the list of variants and their corresponding annotation presented within the graphical interface. In addition, the annotation results are downloadable as text file.</div>
dc.identifier.jour-issn1932-6203
dc.identifier.olddbid176246
dc.identifier.oldhandle10024/159340
dc.identifier.urihttps://www.utupub.fi/handle/11111/31509
dc.identifier.urnURN:NBN:fi-fe2021042824393
dc.language.isoen
dc.okm.affiliatedauthorRathinakannan, Venkat
dc.okm.affiliatedauthorSchukov, Hannu-Pekka
dc.okm.affiliatedauthorHeron, Samuel
dc.okm.affiliatedauthorSchleutker, Johanna
dc.okm.affiliatedauthorSipeky, Csilla
dc.okm.affiliatedauthorDataimport, tyks, vsshp
dc.okm.discipline1182 Biochemistry, cell and molecular biologyen_GB
dc.okm.discipline1184 Genetics, developmental biology, physiologyen_GB
dc.okm.discipline1182 Biokemia, solu- ja molekyylibiologiafi_FI
dc.okm.discipline1184 Genetiikka, kehitysbiologia, fysiologiafi_FI
dc.okm.internationalcopublicationnot an international co-publication
dc.okm.internationalityInternational publication
dc.okm.typeA1 ScientificArticle
dc.publisherPUBLIC LIBRARY SCIENCE
dc.publisher.countryUnited Statesen_GB
dc.publisher.countryYhdysvallat (USA)fi_FI
dc.publisher.country-codeUS
dc.relation.articlenumberARTN e0235669
dc.relation.doi10.1371/journal.pone.0235669
dc.relation.ispartofjournalPLoS ONE
dc.relation.issue7
dc.relation.volume15
dc.source.identifierhttps://www.utupub.fi/handle/10024/159340
dc.titleShAn: An easy-to-use tool for interactive and integrated variant annotation
dc.year.issued2020

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