Moving a project from the status of observing a trait of interest to identifying the underlying causal variant is a challenging task requiring a series of bioinformatics procedures and ideally the availability of a suitable reference genome sequence and its associated resources. We visit common practices for discovering the biology underlying observed traits in mammals.
CITATION STYLE
Willet, C. E., & Wade, C. M. (2014). From the Phenotype to the Genotype via Bioinformatics. Methods in Molecular Biology, 1168, 1–16. https://doi.org/10.1007/978-1-4939-0847-9_1
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