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Stefan J. White and Stuart Cantsilieris (eds.), Genotyping: Methods and Protocols, Methods in Molecular Biology, vol. 1492,
DOI 10.1007/978-1-4939-6442-0_16, © Springer Science+Business Media New York 2017
Chapter 16
Methods for Genotyping-by-Sequencing
Beth A. Rowan, Danelle K. Seymour, Eunyoung Chae,
Derek S. Lundberg, and Detlef Weigel
Abstract
A major goal for biologists is to understand the connection between genes and phenotypic traits, and
genetic mapping in experimental populations remains a powerful approach for discovering the causal genes
underlying phenotypes. For genetic mapping, the process of genotyping was previously a major rate-
limiting step. Modern sequencing technology has greatly improved the resolution and speed of genetic
mapping by reducing the time, labor, and cost per genotyping marker. In addition, the ability to perform
genotyping-by-sequencing (GBS) has facilitated large-scale population genetic analyses by providing a sim-
pler way to survey segregating genetic variation in natural populations. Here we present two protocols for
GBS, using the Illumina platform, that can be applied to a wide range of genotyping projects in different
species. The first protocol is for genotyping a subset of marker positions genome-wide using restriction
digestion, and the second is for preparing inexpensive paired-end whole-genome libraries. We discuss the
suitability of each approach for different genotyping applications and provide notes for adapting these
protocols for use with a liquid-handling robot.
Key words Genomic DNA, Reduced-representation, Genetic mapping, RAD-seq, GBS, RESCAN,
Sequencing library, Solid phase reverse immobilization
1 Introduction
Genotyping is an essential component of many different avenues of
research in biology. For example, whether the investigator is con-
cerned with understanding the genetic basis of phenotypic traits or
the processes of molecular evolution, the ease of obtaining geno-
types is one factor that affects the number of individuals that can
be feasibly included in an experiment.
The cost of high-throughput short-read sequence data has
dropped precipitously over the past decade, owing to continued
improvements to modern sequencing platforms. The Illumina
Electronic supplementary material: The online version of this chapter (doi:10.1007/978-1-4939-6442-0_16) contains
supplementary material, which is available to authorized users.