Skip to content

Conversation

@chaochaowong
Copy link

@chaochaowong chaochaowong commented Oct 23, 2025

I would like to add the following dataset for the hificnv moduel tesing: (1)/data/genomics/homo_sapiens/pacbio/bam/SCRI_KT5028_GRCh38_downsampled_on_chr22_pbmm2_snv_hiphased.bam, (2)/data/genomics/homo_sapiens/genome/GRCh38_chr22.fa, and (3) /data/genomics/homo_sapiens/pacbio/vcf/SCRI_KT5028_GRCh38_downsampled_on_chr22_pbmm2_snv_hiphased.vcf.gz alone with their index files. Those were made specifically for testing the hificnv module and future pb-cpg-tools module. The existing test datasets do not have sufficient reads across a chromosome to run hificnv. So I included the downsized, aligned (against GRCH38), and snv-phased (hiphased) bam with 1000 reads across chr22 to test hificnv and minor allele files yielded by deepvariants for this specific bam file.

…cnv module

tesing,
genome/pacbio/vcv/SCRI_KT5028_GRCh38_downsampled_on_chr22_pbmm2_snv_hiphased.vcf.gz.
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment

Projects

None yet

Development

Successfully merging this pull request may close these issues.

1 participant