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Update README.md
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eblerjana authored Feb 21, 2023
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Expand Up @@ -78,6 +78,14 @@ We typically generate such VCFs from haplotype-resolved assemblies using this pi

In this case you can run PanGenie using the Snakemake pipeline provided in ``pipelines/run-from-callset/``. This automatically merges overlapping alleles into mult-allelic VCF, runs PanGenie and later converts the output VCF back to the original representation.

#### Existing reference panels to use with PanGenie

We have already produced input reference panels for several datasets from high-quality, haplotype-resolved assemblies that can be used as input to PanGenie:

- HGSVC (GRCh38, 64 haplotypes): http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/data_collections/HGSVC2/release/v2.0/PanGenie_PAV-panel/20210311_pav-panel-freeze4.vcf.gz
- HPRC (GRCh38, 88 haplotypes): https://zenodo.org/record/6797328/files/cactus_filtered_ids.vcf.gz?download=1
- HPRC (CHM13, 88 haplotypes): https://zenodo.org/record/7660118/files/cactus_filtered_ids_chm13.vcf.gz?download=1

### Input reads

PanGenie is k-mer based and thus expects **short reads** as input. Reads must be provided in a single FASTA or FASTQ file using the ``-i`` option.
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