Friday, January 31, 2020, 14:00-17:00
St George's, University of London
Room H5.2

• Dr Alan Pittman, Lecturer in Bioinformatics, SGUL
  ✉ [email protected]
• Dionysios Grigoriadis, Bioinformatician, SGUL
  ✉ [email protected]
• SGUL Bioinformatics Unit
• SGUL Genetics Centre Bioinformatics

This hands-on beginners workshop, led by Dr Alan Pittman and Dionysios Grigoriadis, will cover the fundamental steps of analysing next-generation sequencing data; from processing, quality control and aligning raw sequence data to calling SNVs (short germline variants (Single Nucleotide Polymorphisms & short Indels) to obtain a reliable set of called variants for genetic analysis.

Specifically:

• Analysis of the human mitochondrial DNA (mtDNA) as an example.
• Genome reference download and index.
• Raw reads pre-processing and quality control.
• Reads alignment to reference genome.
• Alignment quality control and refinement.
• Variant Calling and Filtration.
• Annotation of the called variants.
• Visualisation of alignments and called variants.