title: Next-Generation Sequencing-Based Approaches for Mutation Mapping and Identification in Caenorhabditis elegans.
abstract: The use of next-generation sequencing (NGS) has revolutionized the way phenotypic traits are assigned to genes. In this review, we describe NGS-based methods for mapping a mutation and identifying its molecular identity, with an emphasis on applications in Caenorhabditis elegans In addition to an overview of the general principles and concepts, we discuss the main methods, provide practical and conceptual pointers, and guide the reader in the types of bioinformatics analyses that are required. Owing to the speed and the plummeting costs of NGS-based methods, mapping and cloning a mutation of interest has become straightforward, quick, and relatively easy. Removing this bottleneck previously associated with forward genetic screens has significantly advanced the use of genetics to probe fundamental biological processes in an unbiased manner.
authors.affiliation: Centre for Integrative Physiology, University of Edinburgh, EH8 9XD, Scotland maria.doitsidou@ed.ac.uk sophie@igbmc.fr r.poole@ucl.ac.uk.
authors.forename: Maria
authors.identifier: http://orcid.org/0000-0002-2358-9810
authors.initials: M
authors.lastname: Doitsidou
authors.affiliation: L'Institut de Génétique et de Biologie Moléculaire et Cellulaire, Centre National de la Recherche Scientifique UMR 7104/Institut National de la Santé et de la Recherche Médicale U964, Université de Strasbourg, 67404, France maria.doitsidou@ed.ac.uk sophie@igbmc.fr r.poole@ucl.ac.uk.
authors.forename: Sophie
authors.identifier: http://orcid.org/0000-0003-2847-1675
authors.initials: S
authors.lastname: Jarriault
authors.affiliation: Department of Cell and Developmental Biology, University College London, WC1E 6BT, United Kingdom maria.doitsidou@ed.ac.uk sophie@igbmc.fr r.poole@ucl.ac.uk.
authors.forename: Richard J
authors.identifier: http://orcid.org/0000-0001-6414-2479
authors.initials: RJ
authors.lastname: Poole
mesh_terms: D000818:Animals; D017173:Caenorhabditis elegans / Q000235:genetics*; D002874:Chromosome Mapping; D019295:Computational Biology; D016678:Genome; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
keywords: Caenorhabditis elegans; WormBook; mapping-by-sequencing; mutation identification; next-generation sequencing; positional cloning