Variant Analysis

Genetic differences (variants) between healthy and diseased tissue, between individuals of a population, or between strains of an organism can provide mechanistic insight into disease processes and the natural function of affected genes.

The tutorials in this section show how to detect evidence for genetic variants in next-generation sequencing data, a process termed variant calling.

Of equal importance, they also demonstrate how you can interpret, for a range of different organisms, the resulting sets of variants by predicting their molecular effects on genes and proteins, by annotating previously observed variants with published knowledge, and by trying to link phenotypes of the sequenced samples to their variant genotypes.

You can view the tutorial materials in different languages by clicking the dropdown icon next to the slides () and tutorial () buttons below.

Requirements

Before diving into this topic, we recommend you to have a look at:

Material

Introduction

Concepts of variant and genotype calling

Lesson Slides Hands-on Recordings Input dataset Workflows
Introduction to Variant analysis
Calling variants in diploid systems
Calling variants in non-diploid systems
prokaryote
Microbial Variant Calling
prokaryote

Model Organisms

Variant calling for studying genomics of model organisms

Lesson Slides Hands-on Recordings Input dataset Workflows
Mapping and molecular identification of phenotype-causing mutations

One Health

Variant calling for monitoring and preventing health threats

Lesson Slides Hands-on Recordings Input dataset Workflows
Avian influenza viral strain analysis from gene segment sequencing data
virology one-health
From NCBI's Sequence Read Archive (SRA) to Galaxy: SARS-CoV-2 variant analysis
covid19 virology one-health
M. tuberculosis Variant Analysis
prokaryote one-health
Mutation calling, viral genome reconstruction and lineage/clade assignment from SARS-CoV-2 sequencing data
covid19 virology one-health
Pox virus genome analysis from tiled-amplicon sequencing data
virology one-health

Human Genetics and Cancer

Variant calling pipelines for studying human genetic diseases and cancer

Lesson Slides Hands-on Recordings Input dataset Workflows
Exome sequencing data analysis for diagnosing a genetic disease
Identification of somatic and germline variants from tumor and normal sample pairs
Somatic Variant Discovery from WES Data Using Control-FREEC
Trio Analysis using Synthetic Datasets from RD-Connect GPAP
cyoa

Galaxy instances

You can use a public Galaxy instance which has been tested for the availability of the used tools. They are listed along with the tutorials above.

You can also use the following Docker image for these tutorials:

docker run -p 8080:80 quay.io/galaxy/variant-analysis-training

NOTE: Use the -d flag at the end of the command if you want to automatically download all the data-libraries into the container.

It will launch a flavored Galaxy instance available on http://localhost:8080. This instance will contain all the tools and workflows to follow the tutorials in this topic. Login as admin with password password to access everything.

Frequently Asked Questions

Common questions regarding this topic have been collected on a dedicated FAQ page . Common questions related to specific tutorials can be accessed from the tutorials themselves.

Editorial Board

This material is reviewed by our Editorial Board:

orcid logoAvatarBérénice Batutorcid logoAvatarWolfgang Maierorcid logoAvatarBjörn GrüningAvatarAnton Nekrutenko

For any question related to this topic and the content, you can contact them or visit our Gitter channel.

Contributors

This material was contributed to by:

orcid logoAvatarHelena Rascheorcid logoAvatarBérénice Batutorcid logoAvatarSimon Gladmanorcid logoAvatarDaniel Blankenbergorcid logoAvatarKrzysztof Poterlowiczorcid logoAvatarNicola Soranzoorcid logoAvatarSaskia HiltemannAvatarMarius van den Beekorcid logoAvatarAlex Ostrovskyorcid logoAvatarYvan Le BrasAvatarAnton Nekrutenkoorcid logoAvatarTomas KlingströmAvatarKhaled Jum'ahorcid logoAvatarAnika Erxlebenorcid logoAvatarDave ClementsAvatarJasper Ouwerkerkorcid logoAvatarWolfgang MaierAvatarTorsten Houwaartorcid logoAvatarKatarzyna KamienieckaAvatarThoba LoseAvatarDavid SalgadoAvatarTorsten SeemannAvatarNick Stolerorcid logoAvatarBjörn Grüningorcid logoAvatarPeter van Heusdenorcid logoAvatarAnna Syme

Funders

This material was funded by:

AvatarBeYond-COVIDAvatarDEFENDAvatarELIXIR-CONVERGE

References