Variant Analysis - Calling very rare variants

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

Questions of the tutorial:

  • What frequency of variants is so low that it is obscured by sequencing error rate?
  • What are the different types of consensus sequences produced from duplex sequencing?

Objectives of the tutorial:

  • Processing raw duplex sequencing data into consensus sequences
  • Find rare variants without relying on diploid assumptions

Resource type: Tutorial

Authors: nekrut, NickSto

Variant Analysis - Calling very rare variants https://tess.elixir-europe.org/materials/variant-analysis-calling-very-rare-variants Exome sequencing means that all protein-coding genes in a genome are sequenced Questions of the tutorial: - What frequency of variants is so low that it is obscured by sequencing error rate? - What are the different types of consensus sequences produced from duplex sequencing? Objectives of the tutorial: - Processing raw duplex sequencing data into consensus sequences - Find rare variants without relying on diploid assumptions