Workshops and courses

ELIXIR node event Variant analysis using long-reads

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Date: 27 January 2027 @ 09:00 - 17:00

Language of instruction: English

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Understanding genomic variation is essential for uncovering the genetic basis of disease, evolution, and phenotypic traits. While short-read sequencing has long been the standard, long-read technologies now offer superior resolution for detecting structural variants and phasing complex regions. This course is designed for researchers working with genomic data who want to explore the potential of long-read sequencing in variant analysis. You will gain hands-on experience using the GenomeComb package (https://derijkp.github.io/genomecomb/) to process long-read (and short-read) data, perform variant and structural variant calling, and annotate results. 

Keywords: advanced bioinformatics, omics

Venue: Antwerp - Campus Drie Eiken UAntwerpen, Universiteitsplein 1

City: Antwerpen

Country: Belgium

Postcode: 2610

Learning objectives:

  • Annotate detected variants with genomic location predicted functional impact and potential phenotypic associations
  • Compare variant calling results across multiple samples and sequencing methods by generating and interpreting multisample files
  • Filter variant datasets based on quality metrics and functional relevance to refine analysis results
  • Identify single-nucleotide variants and structural variants from aligned long-read data
  • Prepare long-read sequencing data by performing adapter clipping and aligning reads to a reference genome

Organizer: VIB

Event types:

  • Workshops and courses

Sponsors: Vlaams Supercomputer Centrum

Instructors: Peter De Rijk

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