Tutorial

Variant Analysis - Calling very rare variants

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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

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