NEXT-GENERATION SEQUENCING-BASED APPROACHES FOR MUTATION MAPPING AND IDENTIFICATION IN C. ELEGANS

Maria Doitsidou, Sophie Jarriault, Richard J. Poole

Research output: Contribution to journalLiterature reviewpeer-review

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.
Original languageEnglish
Pages (from-to)451-474
Number of pages23
JournalGenetics
Volume204
Issue number2
DOIs
Publication statusPublished - 1 Oct 2016

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