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Genome-Wide Association Studies and Heritability Estimation in the Functional Genomics Era

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Population Genomics

Part of the book series: Population Genomics ((POGE))

Abstract

Genome-wide association studies (GWAS) are designed to detect the statistical association between genomic markers and phenotypic data in order to identify loci that control complex traits and more recently to quantify the relative amount of trait variance that arises from genetic sources. Moreover, many genomic resources have been generated and analytical tools developed to bring together information linking GWAS results to causal variants. This book chapter is an incredible effort to bring together information about current aspects of genome-wide studies and the concept of heritability. In the first section of this book chapter, we discuss the most critical concepts and experimental considerations in order to follow GWAS. In the later sections, we explore how researchers are trying to answer the question of whether using functional genomic data can improve the power of GWAS in complex phenotypes and if so far has led us to important biological insights. We review the core concept of heritability, its practical applications, and the classical (pre-genomics) methods for measurement, which largely remain relevant. Finally, we outline the genomic resources available for GWA studies. Also, based on what is available for humans, we identify what are the most critical resources that need to be developed for other species by contrasting the human genomic resources with resources being developed in plant and animal models.

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Authors and Affiliations

  1. Agriculture Research Division, Agriculture Victoria, Melbourne, VIC, Australia

    Dunia Pino Del Carpio

  2. Plant Breeding and Genetics, School for Integrative Plant Science, Cornell University, Ithaca, NY, USA

    Roberto Lozano

  3. Section on Plant Breeding and Genetics, School of Integrative Plant Sciences, Cornell University, Ithaca, NY, USA

    Marnin D. Wolfe

  4. United States Department of Agriculture, Agricultural Research Service, R.W. Holley Center for Agriculture and Health, Ithaca, NY, USA

    Jean-Luc Jannink

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  1. Dunia Pino Del Carpio
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  2. Roberto Lozano
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  3. Marnin D. Wolfe
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  4. Jean-Luc Jannink
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  1. Faculty of Forestry and Environmental Management, University of New Brunswick, Fredericton, NB, Canada

    Om P. Rajora

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Pino Del Carpio, D., Lozano, R., Wolfe, M.D., Jannink, JL. (2018). Genome-Wide Association Studies and Heritability Estimation in the Functional Genomics Era. In: Rajora, O. (eds) Population Genomics. Population Genomics. Springer, Cham. https://doi.org/10.1007/13836_2018_12

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