Microbial Genomics course 2022: Glossary

Key Points

Welcome
Introduction
  • Sequencing S. pneumoniae patient isolates to determine assocations of bacterial genes with disease severity

Sequence Read Quality Lecture
  • Determining sequence quality of reads

Morning break
  • coffee or tea

Sequence assembly
  • Assembly is a process which aligns and merges fragments from a longer DNA sequence in order to reconstruct the original sequence.

  • k-mers are short fragments of DNA of length k

Sequence Assembly Lecture
  • Assembly is a process which aligns and merges fragments from a longer DNA sequence in order to reconstruct the original sequence.

  • k-mers are short fragments of DNA of length k

  • Quality can be assessed using N50 but also using other methods

Lunch break
  • Lunch break

Sequence Quality
  • Quality of a genome assembly can be assessed by looking at some basic statistics on the assembly, but also by using an external reference

Inspecting sequence graphs
  • A genome assembly is fragmented because of repeats in the genome. The assembly graph display possible connections between contigs.

Afternoon break
  • coffee or tea

Introduction day 2
  • Discussing issues from day 1 and day 2

Annotation
  • Genome annotation includes prediction of protein-coding genes, as well as other functional genome units

  • It often starts by identifying open reading frames

  • Predicted sequences are further analysed with BLAST

  • Larger DNA sequences or genomes require automated prediction and annotation

Morning break
  • coffee or tea

Bacterial GWAS Lecture
  • GWAS is the association of genes, snps, kmers with phenotypes observed

  • Population structure is needed to correct for linkage disequilibrium

  • Multiple testing correction is needed to deal with false positives

Pangenome analysis
  • The microbial pangenome is the union of genes in genomes of interest.

  • The microbial core genome is the intersection of genes shared by genomes of interest.

  • Roary is a pipeline to determine genes of the pangenome.

Lunch break
  • Lunch

Phylogenetic trees from the core genome
  • A tree can be generated from a combined set of proteins for better resolution

Bacterial GWAS
  • Contigency testing for gene presence absence to associate a genotype with a phenotype, similar to GWAS in clinical genetics is possible with bacterial genomes

Wrapup
  • Phage-Derived Protein Induces Increased Platelet Activation and Is Associated with Mortality in Patients with Invasive Pneumococcal Disease

Glossary

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