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21 Genome partitioning and whole-genome analysis
Abstract
Standard DNA marker-based approaches to mapping genes that influence complex traits typically consider a limited number of hypotheses. Most of these hypotheses concentrate on the effect of a single individual locus (or relatively few loci) on the trait of interest. Although of tremendous importance scientifically, such hypotheses do not accommodate the full range of genetic phenomena that may contribute to phenotypic expression. We present novel approaches to complex trait analysis that make as complete use of marker information as is possible. The proposed methodologies can be used to entertain a wide variety of hypotheses, including those that engage, for example, the contribution of a particular chromosome, genome-wide heterozygosity, and multiple genomic regions, to phenotypic expression. We consider a number of possible extensions of the proposed methods as well as their limitations. Although we discuss many methodological details in the context of quantitative trait locus mapping involving sampling units such as human pedigrees and hybrids resulting from crosses between inbred strains of model organisms, our procedures can be easily adapted to standard sibpair and other sampling unit-based designs. Ultimately, the proposed approaches not only have the potential to increase power to identify individual loci that harbor trait-influencing genes, but also present a framework for testing a number of hypotheses about the nature of the genetic determinants of phenotypes in general.
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“Direct empirical support for the infinitesimal model comes from genomic variance analyses70, 71.”
From Rare and common variants: twenty arguments (2012) · cites this paper as [70]
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Metadata
- Authors
- Schorki, N. J.
- Affiliations
- Harvard University (US)
- Corresponding author
- Schorki, Nicholas J.
- Venue
- Advances in Genetics
- Publisher
- Elsevier
- Published
- 2001
- Volume
- 42
- Pages
- 299-322
- ISSN
- 0065-2660 (ISSN-L)
- OpenAlex
- W2169856008
- Cited by
- 29
- References
- 69
- Citations by year
- 2022: 1 · 2017: 2 · 2016: 1 · 2015: 2 · 2014: 2 · 2012: 3
- FWCI
- 1.21
- Type
- book chapter
- Language
- en
- Open access
- closed
- Locations
- Advances in genetics (publishedVersion)
- PubMed (publishedVersion)
- The Mouseion at the JAXlibrary (Jackson Laboratory) (submittedVersion)
- Funders
- National Institutes of Health
- National Heart, Lung, and Blood Institute (HL94-011, HL54998-01, P50HL054998)
- National Center for Research Resources (P41RR003655, RR03655-11)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
- Keywords
- genome partitioning, whole-genome analysis, complex trait mapping, quantitative trait loci, heterozygosity, human pedigrees
- MeSH terms
- Alleles, Animals, Crosses, Genetic, Genetic Markers, Genetic Testing, Genetics, Population, Humans, Phenotype, Models, Statistical, Genome, Human, Animals, Inbred Strains, Quantitative Trait, Heritable
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