Published June 2025 | Version v9
Dataset Open

Test data for CIBERER nextflow pipelines

Description

The test files used for the mosaicism-nextflow pipeline, owned by CIBERER pipelines, are processed files. The raw data originates from sample NA18278 from the GIAB project, accessible at https://www.internationalgenome.org/data-portal/search?q=NA12878.

The specific region selected for analysis is: 17:7577873-7580187.

The test dataset for CNV (test_set.tar.gz), generated in silico by VISOR (https://doi.org/10.1093/bioinformatics/btz719), consists of 8 combinations of 4 different haplotypes derived from chromosome 22 (GRCh38), at an average coverage of 30x.

A small test set for CNVs (CNV_test_set.tar.gz) consists on 10 samples from 1000 genomes project (hs37d5), each of them with a deletion in one exon of BRCA1.

Files

chr17_chrom_sizes.txt

Files (661.4 MB)

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md5:b21ce62b3815e8c41fe26a1b87ccf294
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md5:4f13c555e8b1b4fcddac07b0c3478853
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md5:f9588051a77dc26411a1943495978368
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md5:e17053476ff8dddac18d3b07ba25ae29
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md5:3480956735adead8aa9bd7a03019e4cc
550.2 MB Download

Additional details

Dates

Created
2024