Published December 5, 2024 | Version v2

Dataset supporting the tool 'delfies: a Python package for the detection of DNA breakpoints with neo-telomere addition'

Description

Purpose


These data can be used to test my tool delfies on real data, to get a concrete sense of its inputs/outputs and test that it is 
properly installed.

Description

Genome

I downloaded the genome of Oscheius onirici, accession: GCA_932521025.

I subsampled the genome to the last 2kbp of chromosome I, which contains an elimination breakpoint, 
using `seqkit` v2.8.2, giving the FASTA file in this release.

Sequencing data

I then downloaded the following sequencing data for *O. onirici*, from the European Nucleotide Archive:

  • ERR5967937: Illumina NovaSeq 6000 paired end short reads. Reads are 2x150bp with average per-base quality of Q27.
  • ERR10796202: Oxford Nanopore PromethION long reads. Reads have average length 11.9kbp and average per-base quality Q11.4.
  • ERR7979900: Pacific Biosciences (PacBio) Sequel II long reads. Reads have average length 11.1kbp and average per-base quality Q28.

And aligned them to the above genome with `minimap2` version 2.26-r1175, using the following presets: 
"map-ont" for the Nanopore data, "map-hifi" for the PacBio data, "sr" for the Illumina data.

After sorting with `samtools`, this gives the BAM files in this release.

Running delfies

I then ran `delfies` version 0.6.0 on each BAM and genome, as:

```sh
delfies --threads 16 \
    --telo_forward_seq TTAGGC \
    --breakpoint_type all \
    --min_mapq 20 \
    --min_supporting_reads 6 \
    \${genome} \${bam} \${odirname}
```

The three resulting output directories are in this release, prefixed with `delfies_`.

A single, identical breakpoint is found using all three BAMs (see files '*breakpoint_locations.bed').

Data source

The above raw data were produced and released by the Wellcome Sanger Institute as part of projects 
PRJEB51305 and PRJEB59023.

Files

Files (34.6 MB)

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md5:5de6bd89570cbef30de2fc3cf0508b60
34.6 MB Download

Additional details

Funding

Agence Nationale de la Recherche
ELIMINATION ANR-22-79 CE12-0027

Software