Introduction to bioinformatics using NGS data
Date: 17 - 21 November 2025
Language of instruction: English
Application Deadline: 12 October 2025 @ 23:00
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
This on-site training event costs 3000 SEK for academic participants and 15 000 SEK for non-academic participants, invoiced to the participant's organisation. If you accept a position and do not participate (no-show) you will still be invoiced at the standard fee. Please note that NBIS cannot invoice individuals.
Contact: Responsible teachers: Diana Ekman, Martin Dahlö, Roy Francis. Contact information: edu.intro-ngs@nbis.se
Keywords: NBIS, NGS, RNAseq, sequencing, core skills, bioinformatics, data analysis, genomics, introductory course, programming, reference genomes
Venue: SciLifeLab Uppsala, Navet BMC, Husaregatan 3
City: Uppsala
Country: Sweden
Prerequisites:
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.
Learning objectives:
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 high performance 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.
- Demonstrate hands-on experience with handling raw RNA sequencing data, QC and quantification of gene expression.
- Explain the steps involved in differential gene expression using RNA seq data.
Target audience: clinicians, core facility staff, group leaders, healthcare professionals, industry professionals, international, PhD Students, postdocs, research engineers, researchers, staff scientists
Tech requirements:
BYOL, bring your own laptop, configured according to precourse instructions.
Cost basis: Cost incurred by all
Cost: kr 3000.0 (SEK)
Activity log
