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Detecting Multiethnic Rare Variants

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Statistical Human Genetics

Part of the book series: Methods in Molecular Biology ((MIMB,volume 1666))

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Abstract

Genome-wide association studies have identified many common genetic variants which are associated with certain diseases. The identified common variants, however, explain only a small portion of the heritability of a complex disease phenotype. The missing heritability motivated researchers to test the hypothesis that rare variants influence common diseases. Next-generation sequencing technologies have made the studies of rare variants practicable. Quite a few statistical tests have been developed for exploiting the cumulative effect of a set of rare variants on a phenotype. The best-known sequence kernel association tests (SKATs) were developed for rare variants analysis of homogeneous genomes. In this chapter, we illustrate applications of the SKATs and offer several caveats regarding them. In particular, we address how to modify the SKATs to integrate local allele ancestries and calibrate the cryptic relatedness and population structure of admixed genomes.

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Acknowledgments

This work was funded in part by NIH grant HG003054 to X.Z. and by Tulane’s Committee on Research fellowship (600890) and Carol Lavin Bernick Faculty Grant (632119) to H.Q.

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Authors and Affiliations

  1. Department of Global Biostatistics and Data Science, Tulane University School of Public Health and Tropical Medicine, 1440 Canal Street, Suite 1610, New Orleans, LA, 70112, USA

    Weiwei Ouyang Ph.D. & Huaizhen Qin Ph.D.

  2. Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, 44106, USA

    Xiaofeng Zhu Ph.D. & Huaizhen Qin Ph.D.

Authors
  1. Weiwei Ouyang Ph.D.
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  2. Xiaofeng Zhu Ph.D.
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  3. Huaizhen Qin Ph.D.
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Corresponding author

Correspondence to Huaizhen Qin Ph.D. .

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Editors and Affiliations

  1. Case Western Reserve University, Cleveland, OH, USA

    Robert C. Elston

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Ouyang, W., Zhu, X., Qin, H. (2017). Detecting Multiethnic Rare Variants. In: Elston, R. (eds) Statistical Human Genetics. Methods in Molecular Biology, vol 1666. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-7274-6_26

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  • DOI: https://doi.org/10.1007/978-1-4939-7274-6_26

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  • Publisher Name: Humana Press, New York, NY

  • Print ISBN: 978-1-4939-7273-9

  • Online ISBN: 978-1-4939-7274-6

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