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popSTR2 enables clinical and population-scale genotyping of microsatellites

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dc.contributor Reykjavík University (RU)
dc.contributor Háskólinn í Reykjavík (HR)
dc.contributor.author Kristmundsdottir, Snædis
dc.contributor.author Eggertsson, Hannes P
dc.contributor.author Arnadottir, Gudny A
dc.contributor.author Halldórsson, Bjarni
dc.date.accessioned 2021-07-02T12:54:39Z
dc.date.available 2021-07-02T12:54:39Z
dc.date.issued 2019-12-05
dc.identifier.citation Kristmundsdottir, S., Eggertsson, H. P., Arnadottir, G. A. og Halldorsson, B. V. (2020). popSTR2 enables clinical and population-scale genotyping of microsatellites. Bioinformatics, 36(7), 2269–2271. https://doi.org/10.1093/bioinformatics/btz913
dc.identifier.issn 1367-4803
dc.identifier.issn 1460-2059
dc.identifier.uri https://hdl.handle.net/20.500.11815/2646
dc.description.abstract Summary: popSTR2 is an update and augmentation of our previous work ‘popSTR: a population-based microsatellite genotyper’. To make genotyping sensitive to inter-sample differences, we supply a kernel to estimate sample-specific slippage rates. For clinical sequencing purposes, a panel of known pathogenic repeat expansions is provided along with a script that scans and flags for manual inspection markers indicative of a pathogenic expansion. Like its predecessor, popSTR2 allows for joint genotyping of samples at a population scale. We now provide a binning method that makes the microsatellite genotypes more amenable to analysis within standard association pipelines and can increase association power. Availability and implementation: https://github.com/DecodeGenetics/popSTR. Contact: snaedisk@decode.is or bjarni.halldorsson@decode.is Supplementary information: Supplementary data are available at Bioinformatics online.
dc.format.extent 2269-2271
dc.language.iso en
dc.publisher Oxford University Press (OUP)
dc.relation.ispartofseries Bioinformatics;36(7)
dc.rights info:eu-repo/semantics/openAccess
dc.subject Statistics and Probability
dc.subject Computational Theory and Mathematics
dc.subject Biochemistry
dc.subject Molecular Biology
dc.subject Computational Mathematics
dc.subject Computer Science Applications
dc.subject Líkindafræði
dc.subject Tölfræði
dc.subject Tölvunarfræði
dc.subject Lífefnafræði
dc.subject Sameindalíffræði
dc.title popSTR2 enables clinical and population-scale genotyping of microsatellites
dc.type info:eu-repo/semantics/article
dcterms.license VC The Author(s) 2019. Published by Oxford University Press. 2269 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
dc.description.version Peer Reviewed (ritrýnd grein)
dc.identifier.journal Bioinformatics
dc.identifier.doi https://doi.org/10.1093/bioinformatics/btz913
dc.relation.url https://academic.oup.com/bioinformatics/article/36/7/2269/5658624
dc.contributor.department Verkfræðideild (HR)
dc.contributor.department Department of Engineering (RU)
dc.contributor.school Tæknisvið (HR)
dc.contributor.school School of Technology (RU)

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