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Di Genoma Lab

hi 👋! welcome to the Di genoma lab.

Short description

We are a Chilean-based research group that combines the development of new algorithms, genome analysis, and omics technologies to study complex biological systems.

Main Repositories

Genome Assembly

We have developped the following tools for de novo assembly of genomes:

  1. Wengan is an accurate and ultra-fast hybrid genome assembler.
  2. Fast-SG is an alignment-free algorithm for ultrafast scaffolding graph construction from short or long reads.

Cancer Genomics

We have developed, in conjunction with IARCbioinfo, the following workflows to study cancer genomes:

  1. purple-nf a nextflow pipeline for somatic Copy Number Variant calling with PURPLE.
  2. sv_somatic_cns consensus calling of Somatic structural variants from Paired WGS.
  3. ampliconarchitect-nf a nextflow pipeline to discover ecDNA on cancer genomes
  4. nf-gene-fusions a nextflow pipeline to call somatic mRNA fusions