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ProbABEL package for genome-wide association analysis of imputed data

Open access
Aulchenko, Yurii S, Struchalin, Maksim V, van Duijn, Cornelia M·2010·BMC Bioinformatics

Abstract

BACKGROUND: Over the last few years, genome-wide association (GWA) studies became a tool of choice for the identification of loci associated with complex traits. Currently, imputed single nucleotide polymorphisms (SNP) data are frequently used in GWA analyzes. Correct analysis of imputed data calls for the implementation of specific methods which take genotype imputation uncertainty into account. RESULTS: We developed the ProbABEL software package for the analysis of genome-wide imputed SNP data and quantitative, binary, and time-till-event outcomes under linear, logistic, and Cox proportional hazards models, respectively. For quantitative traits, the package also implements a fast two-step mixed model-based score test for association in samples with differential relationships, facilitating analysis in family-based studies, studies performed in human genetically isolated populations and outbred animal populations. CONCLUSIONS: ProbABEL package provides fast efficient way to analyze imputed data in genome-wide context and will facilitate future identification of complex trait loci.

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Metadata

Authors
Aulchenko, Y. S., Struchalin, M. V., & van Duijn, C. M.
Venue
BMC Bioinformatics
Published
2010-03-16
Volume
11
Issue
1
Pages
134-134
ISSN
1471-2105 (ISSN-L)
OpenAlex
W2119586206
Cited by
396
References
29
FWCI
24.14
Type
journal article
Language
en
Open access
gold

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CoChat. (2026). Citation check: ProbABEL package for genome-wide association analysis of imputed data. https://app.cochat.ai/papers/10.1186/1471-2105-11-134
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Aulchenko, Y. S., Struchalin, M. V., & van Duijn, C. M. (2010). ProbABEL package for genome-wide association analysis of imputed data. BMC Bioinformatics. https://doi.org/10.1186/1471-2105-11-134

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