FixItFelix: improving genomic analysis by fixing reference errors

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dc.citation.articleNumber31en_US
dc.citation.journalTitleGenome Biologyen_US
dc.citation.volumeNumber24en_US
dc.contributor.authorBehera, Sairamen_US
dc.contributor.authorLeFaive, Jonathonen_US
dc.contributor.authorOrchard, Peteren_US
dc.contributor.authorMahmoud, Medhaten_US
dc.contributor.authorPaulin, Luis F.en_US
dc.contributor.authorFarek, Jesseen_US
dc.contributor.authorSoto, Daniela C.en_US
dc.contributor.authorParker, Stephen C. J.en_US
dc.contributor.authorSmith, Albert V.en_US
dc.contributor.authorDennis, Megan Y.en_US
dc.contributor.authorZook, Justin M.en_US
dc.contributor.authorSedlazeck, Fritz J.en_US
dc.date.accessioned2023-03-10T19:04:19Zen_US
dc.date.available2023-03-10T19:04:19Zen_US
dc.date.issued2023en_US
dc.description.abstractThe current version of the human reference genome, GRCh38, contains a number of errors including 1.2 Mbp of falsely duplicated and 8.04 Mbp of collapsed regions. These errors impact the variant calling of 33 protein-coding genes, including 12 with medical relevance. Here, we present FixItFelix, an efficient remapping approach, together with a modified version of the GRCh38 reference genome that improves the subsequent analysis across these genes within minutes for an existing alignment file while maintaining the same coordinates. We showcase these improvements over multi-ethnic control samples, demonstrating improvements for population variant calling as well as eQTL studies.en_US
dc.identifier.citationBehera, Sairam, LeFaive, Jonathon, Orchard, Peter, et al.. "FixItFelix: improving genomic analysis by fixing reference errors." <i>Genome Biology,</i> 24, (2023) Springer Nature: https://doi.org/10.1186/s13059-023-02863-7.en_US
dc.identifier.digitals13059-023-02863-7en_US
dc.identifier.doihttps://doi.org/10.1186/s13059-023-02863-7en_US
dc.identifier.urihttps://hdl.handle.net/1911/114513en_US
dc.language.isoengen_US
dc.publisherSpringer Natureen_US
dc.rightsThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.en_US
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/.en_US
dc.titleFixItFelix: improving genomic analysis by fixing reference errorsen_US
dc.typeJournal articleen_US
dc.type.dcmiTexten_US
dc.type.publicationpublisher versionen_US
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