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Description

This intense one-week workshop provides an introduction to the analysis of next generation sequencing data. Lectures on the theory of concepts will be paired with practical computational exercises in the Linux environment. The practical exercises will focus on data from the Illumina platform, but we will discuss other sequencing platforms and the advantages and challenges to using their data during the lectures.

Briefly, the workshop covers the followings major topics:

  • Working on the UNIX/LINUX command line
  • Bioinformatic/NGS data formats and QC
  • DNA variant calling workflow essentials
  • RNA sequence analysis workflow essentials

Upcoming Training Instances

Introduction to Bioinformatics using NGS data

April 19, 2027 09:00 – April 23, 2027 17:00

Organizer: NBIS

Location: Sweden

Details

Language
English
Licence
Creative Commons Attribution Non Commercial Share Alike 4.0 International
Affiliations
SciLifeLab
Last Updated
November 09, 2026 09:38

Content Providers

Learning Outcomes

After this workshop you should be able to:

  • Describe the basic principles of next generation sequencing.
  • Use the Linux command line interface to manage simple file processing operations, and organise directory structures.
  • Connect to and work on a remote compute cluster.
  • Apply programs in Linux for analysis of NGS data.
  • Summarise the applications of current NGS technologies, including the weakness and strengths of the approaches and when it is appropriate to use which one of them.
  • Explain common NGS file formats.
  • Interpret quality control of NGS reads.
  • Explain the steps involved in variant calling using whole genome sequencing data.
  • Independently perform a basic variant calling workflow on example data.
  • Explain the steps involved in a differential gene expression workflow using RNA seq data.
  • Hands-on experience with handling of raw RNA sequencing data, QC and quantification of gene expression.
  • Conceptual understanding of differential gene expression analysis.

Structure & Duration

5 days contiguously Mon-Fri, 09:00 to 17:00 everyday except Fri when it's 09:00 to 15:00.

Prerequisites & Technical Requirements

Prior Knowledge

Have a background in genetics, cell biology, biomedicine, biochemistry, bioinformatics or comparable.
To get the maximum benefit from the workshop you should have a research project where you are currently using or are planning to use next generation sequencing.

Technical Requirements

No bioinformatics background is required. You should be able to use a computer.

Audience & Keywords

Target Audience
clinicianscore facility staffgroup leadershealthcare professionalsindustry professionalsinternationalPhD studentsPostdocsresearch engineersresearch assistantsresearchersstaff scientistsprincipal investigators
Keywords
bioinformaticslinuxbashintroductionrna-seqvariant callingSNPcommand line

Course Team

Authors
  • Martin Dahlö · NBIS, SciLifeLab, Uppsala University · ORCID iDORCID
  • Diana Ekman · NBIS, SciLifeLab, Stockholm University · ORCID iDORCID
  • Estelle Proux-Wéra · NBIS, SciLifeLab, Stockholm University · ORCID iDORCID

Past Course Instances

Introduction to Bioinformatics using NGS data

March 02, 2026 09:00 – March 06, 2026 17:00

Organizer: NBIS

Location: Sweden

Introduction to bioinformatics using NGS data

November 17, 2025 09:00 – November 21, 2025 17:00

Organizer: NBIS

Location: Uppsala, Sweden

Introduction to bioinformatics using NGS data – ONLINE

March 24, 2025 09:00 – March 28, 2025 17:00

Organizer: NBIS

Location: Online, Sweden

Introduction to bioinformatics using NGS data

November 24, 2024 09:00 – November 29, 2024 17:00

Organizer: NBIS

Location: Linköping, Sweden

Introduction to bioinformatics using NGS data – ONLINE

March 18, 2024 09:00 – March 22, 2024 17:00

Organizer: NBIS

Location: Online, Sweden


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