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Procedural steps

The publication by 1 provides a good discussion of the common tools and approaches for variant calling. Also see the older 2.

The figure below depicts the essential steps of the pipeline, which are detailed in the subsequent sections.

Variant Calling pipeline steps
Figure 1: Steps in the variant calling workflow

Bibliography

  1. Pabinger, S. et al. A survey of tools for variant analysis of next-generation genome sequencing data. Brief. Bioinformatics 15, 256–278 (2014). ↩

  2. Nielsen, R., Paul, J. S., Albrechtsen, A. & Song, Y. S. Genotype and SNP calling from next-generation sequencing data. Nat. Rev. Genet. 12, 443–451 (2011). ↩





Tags: genomics_analysis