e-learning

Calling variants in diploid systems

Abstract

Today we hear a lot about personalized medicine. Yet the personalization is defined by the genetic make up of the individual. In this tutorial we will discuss how this information can be uncovered from the genomic sequencing data.

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 to find variable sites in diploid genomes?

Learning Objectives

  • Identification of genetic variations using variant calling

Licence: Creative Commons Attribution 4.0 International

Keywords: Variant Analysis

Competency level: • Beginner

Target audience: Students

Resource type: e-learning

Version: 17

Status: Active

Prerequisites:

  • Introduction to Galaxy Analyses
  • Mapping
  • Quality Control

Learning objectives:

  • Identification of genetic variations using variant calling

Date modified: 2025-04-28

Date published: 2017-02-20

Authors: Anton Nekrutenko, Khaled Jum'ah, Nicola Soranzo

Contributors: Niall Beard, William Durand, Björn Grüning, Bérénice Batut, Helena Rasche, Nicola Soranzo, Saskia Hiltemann

Scientific topics: Genetic variation


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