Variant Analysis - Mapping and molecular identification of phenotype-causing mutations

Exome sequencing means that all protein-coding genes in a genome are sequenced

Questions of the tutorial:

  • What is mapping-by-sequencing?
  • How can it help you identify the causative mutation in phenotypic mutants isolated from genetic screens?

Objectives of the tutorial:

  • Use joint variant calling and extraction to facilitate variant comparison across samples
  • Perform variant linkage analyses for phenotypically selected recombinant progeny
  • Filter, annotate and report lists of variants

Resource type: Tutorial

Authors: wm75

External resources:
Variant Analysis - Mapping and molecular identification of phenotype-causing mutations https://tess.elixir-europe.org/materials/variant-analysis-mapping-by-sequencing Exome sequencing means that all protein-coding genes in a genome are sequenced Questions of the tutorial: - What is mapping-by-sequencing? - How can it help you identify the causative mutation in phenotypic mutants isolated from genetic screens? Objectives of the tutorial: - Use joint variant calling and extraction to facilitate variant comparison across samples - Perform variant linkage analyses for phenotypically selected recombinant progeny - Filter, annotate and report lists of variants