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ResearchBioinformatics · Genomics · Apr 2024 – Oct 2024

Genome Assembly & SARS-CoV-2 Quantification

de Bruijn genome assembly and variant quantification for viral surveillance.

de Bruijn
Assembly
graph-based
SARS-CoV-2
Targets
+ Omicron
ML-tuned
k-mer
PySam
Toolchain
Nextclade · ETE3

Genome-assembly pipelines built on de Bruijn graphs to quantify closely related viral strains, with machine-learning-optimised k-mer selection for accuracy and robustness. The workflow was extended to SARS-CoV-2 and Omicron quantification — integrating variant calling (PySam), mutation annotation (Nextclade, CoV-GLUE), and phylogenetic tree generation (ETE3, Biopython) for large-scale genomic surveillance.

The problem

Telling apart closely related viral strains from short reads is a hard combinatorial problem — and it has to scale for real genomic surveillance.

The solution

de Bruijn-graph assembly with ML-tuned k-mer selection differentiates strains, then variant calling, mutation annotation, and phylogenetics extend it into a full SARS-CoV-2 / Omicron quantification and surveillance workflow.

System Architecture
Sequencing Readsk-mer SelectionML-optimisedde Bruijn AssemblyVariant CallingPySamAnnotationNextclade · CoV-GLUEPhylogeneticsETE3 · Biopython
Challenges solved
  • 1Optimising k-mer selection for accuracy and robustness.
  • 2Differentiating strains and enhancing mutation sensitivity.
  • 3Scaling the workflow for large-scale viral surveillance.
Highlights
  • ML-optimised k-mer selection over de Bruijn assembly.
  • SARS-CoV-2 & Omicron variant calling and annotation.
  • Phylogenetic trees for large-scale viral surveillance.
Technology
PythonBioPythonPySamNextcladeCoV-GLUEETE3scikit-learn
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