e-learning

Calling variants in non-diploid systems

Abstract

The majority of life on Earth is non-diploid and represented by prokaryotes, viruses, and their derivatives, such as our own mitochondria or plant's chloroplasts. In non-diploid systems, allele frequencies can range anywhere between 0 and 100% and there could be multiple (not just two) alleles per locus. The main challenge associated with non-diploid variant calling is the difficulty in distinguishing between the sequencing noise (abundant in all NGS platforms) and true low frequency variants. Some of the early attempts to do this well have been accomplished on human mitochondrial DNA although the same approaches will work equally good on viral and bacterial genomes,.

About This Material

This is a Hands-on Tutorial from the GTN which is usable either for individual self-study, or as a teaching material in a classroom.

Questions this will address

  • How does frequency of mitochondrial polymorphisms change from mother to child?

Learning Objectives

  • Using Galaxy's main site we will see how to call variants in bacteria, viruses, and organelles.

Licence: Creative Commons Attribution 4.0 International

Keywords: Variant Analysis, microgalaxy, prokaryote

Target audience: Students

Resource type: e-learning

Version: 23

Status: Active

Prerequisites:

  • Introduction to Galaxy Analyses
  • Mapping
  • Quality Control

Learning objectives:

  • Using Galaxy's main site we will see how to call variants in bacteria, viruses, and organelles.

Date modified: 2024-03-15

Date published: 2017-02-16

Authors: Alex Ostrovsky, Anton Nekrutenko

Contributors: Alex Ostrovsky, Anton Nekrutenko

Scientific topics: Genetic variation, Genomics, Sequence assembly, DNA polymorphism, Microbiology, Sequence analysis


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