From the phenotype to the genotype via bioinformatics

Methods Mol Biol. 2014:1168:1-16. doi: 10.1007/978-1-4939-0847-9_1.

Abstract

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.

MeSH terms

  • Animals
  • Computational Biology / methods*
  • Genotype*
  • Mammals
  • Phenotype*