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) |