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2 changes: 1 addition & 1 deletion .gitignore
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!.pixi/config.toml

# claude
**/claude
**/.claude
7 changes: 7 additions & 0 deletions README.md
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# Snakemake workflow implementation to create DivRef-style resource

This workflow is inspired by the [DivRef](https://github.com/e9genomics/human-diversity-reference) repository which is used to generate a bundle of FASTA sequences and a corresponding DuckDB index of common human variation.

The original implementation is via a set of standalone Python scripts and a Makefile.
This implementation:
1. Wraps the Python scripts in a toolkit with added typing, improved parameterization, and added unit testing.
2. Adds a Snakemake workflow and associated configuration to drive the resource generation process.

## Set up Environment

The environment for this analysis is managed using `pixi`.
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18 changes: 16 additions & 2 deletions divref/divref/main.py
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import defopt

from divref.tools.hello import hello
from divref.tools.compute_haplotype_statistics import compute_haplotype_statistics
from divref.tools.compute_haplotypes import compute_haplotypes
from divref.tools.compute_variation_ratios import compute_variation_ratios
from divref.tools.create_fasta_and_index import create_fasta_and_index
from divref.tools.create_gnomad_sites_vcf import create_gnomad_sites_vcf
from divref.tools.extract_gnomad_afs import extract_gnomad_afs
from divref.tools.remap_divref import remap_divref
from divref.tools.rewrite_fasta import rewrite_fasta

_tools: List[Callable[..., None]] = [
hello,
compute_haplotype_statistics,
compute_haplotypes,
compute_variation_ratios,
create_fasta_and_index,
create_gnomad_sites_vcf,
extract_gnomad_afs,
remap_divref,
rewrite_fasta,
]


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11 changes: 0 additions & 11 deletions divref/divref/tools/hello.py

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