Friday, January 31, 2020, 14:00-17:00
St George's, University of London
Room H5.2
- Dr Alan Pittman, Lecturer in Bioinformatics, SGUL
โ [email protected] - Dionysios Grigoriadis, Bioinformatician, SGUL
โ [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.