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SNP Discovery and Genotyping

Methods and Applications

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Computational Genetics and Genomics

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Abstract

The identification of genes affecting complex traits (i.e., biological traits affected by several genetic and environmental factors) is a very difficult and challenging task (1–3). For many complex traits, the observable variation between individuals is quantitative; hence, loci affecting such traits are generally termed quantitative trait loci (QTLs). In contrast with monogenic traits, it is impossible to identify all the genomic regions responsible for complex trait variation without additional information on how these regions segregate (1,4). A key development in complex trait analysis was the establishment of large collections of molecular/genetic markers. With the discovery of a large amount of single nucleotide polymorphisms (SNPs) in human and model organisms, correlating SNP markers with phenotype in a segregating population has become a useful tool in QTL studies (5). In both linkage and association mapping, the development of high-throughput methods to discover and genotype polymorphism markers has enabled whole-genome scanning to detect individual loci possible (2).

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Author information

Authors and Affiliations

  1. Human Genetics Department, Roche Molecular Systems Inc., Alameda, CA

    Jun Wang, Soren Germer & Russell Higuchi

  2. Department of Genetics and Genomics, Roche Palo Alto, Palo Alto, CA

    Dee Aud

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  1. Jun Wang
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  2. Dee Aud
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  3. Soren Germer
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  4. Russell Higuchi
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Editor information

Editors and Affiliations

  1. Department of Genetics and Genomics, Roche Palo Alto, Palo Alto, CA

    Gary Peltz MD, PhD

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© 2005 Humana Press Inc., Totowa, NJ

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Wang, J., Aud, D., Germer, S., Higuchi, R. (2005). SNP Discovery and Genotyping. In: Peltz, G. (eds) Computational Genetics and Genomics. Humana Press. https://doi.org/10.1007/978-1-59259-930-1_5

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