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Mutation Mapping and Identification by Whole-Genome Sequencing

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C. elegans

Part of the book series: Methods in Molecular Biology ((MIMB,volume 2468))

Abstract

Geneticists approach biology with a simple question: which genes are required for the pathway or process of interest? Classical genetic screens (aka forward genetics) in model organisms such as Caenorhabditis elegans have been the method of choice for answering that question. Next-generation sequencing provides the means to generate a comprehensive list of sequence variants, including the mutation of interest. Herein is described a workflow for sample preparation and data analysis to allow the simultaneous mapping and identification of candidate mutations by whole-genome sequencing in Caenorhabditis elegans.

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Acknowledgments

I would like to thank Sevinc Ercan for sharing the small-scale gDNA isolation protocol. This work was supported by the Intramural Research Program of the National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases, and is subject to the NIH Public Access Policy.

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Correspondence to Harold E. Smith .

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© 2022 The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature

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Smith, H.E. (2022). Mutation Mapping and Identification by Whole-Genome Sequencing. In: Haspel, G., Hart, A.C. (eds) C. elegans. Methods in Molecular Biology, vol 2468. Humana, New York, NY. https://doi.org/10.1007/978-1-0716-2181-3_13

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  • DOI: https://doi.org/10.1007/978-1-0716-2181-3_13

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  • Publisher Name: Humana, New York, NY

  • Print ISBN: 978-1-0716-2180-6

  • Online ISBN: 978-1-0716-2181-3

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