Abstract
Recent technological developments have revolutionized the way we perform genetic analyses. In particular whole-genome sequencing provides access to the entire genetic makeup of an individual, and it is now an affordable approach for many research groups. As a consequence genome sequencing is pervading many fields of biological research. Sequencing technologies are evolving rapidly and so do their applications. Here we provide a first primer on whole-genome sequencing, focusing on two of the most popular applications: (1) de novo genome sequencing, in which the objective is obtaining a high-quality genome assembly that can serve as a reference for a species or variety, and (2) genome resequencing, when there is an available reference genome and the objective is to map sequence variation of an individual or a set of individuals. It is not our intention to provide a comprehensive overview of current methodologies that will likely soon become obsolete, but rather focus on general principles that will have a more general applicability.
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Annex: Quick Reference Guide
Annex: Quick Reference Guide
Representation of the wet lab procedure workflow
Main steps of the computational analysis pipeline
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Gabaldón, T., Alioto, T.S. (2016). Whole-Genome Sequencing Recommendations. In: Aransay, A., Lavín Trueba, J. (eds) Field Guidelines for Genetic Experimental Designs in High-Throughput Sequencing. Springer, Cham. https://doi.org/10.1007/978-3-319-31350-4_2
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DOI: https://doi.org/10.1007/978-3-319-31350-4_2
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