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Add dataset card, checksums, EAF, rsID tables, recombination maps, and example sumstats

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README.md CHANGED
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  ---
 
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  license: other
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- license_name: license
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- license_link: LICENSE
 
 
 
 
 
 
 
 
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  ---
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
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  ---
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+ pretty_name: GWASLab Reference
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  license: other
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+ license_name: source-data-terms
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+ task_categories:
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+ - other
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+ tags:
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+ - gwas
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+ - genomics
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+ - 1000-genomes
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+ - hapmap
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+ - ld-reference
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+ - allele-frequency
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  ---
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+
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+ # GWASLab reference datasets
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+
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+ Processed genomic reference files used by [GWASLab](https://cloufield.github.io/gwaslab/) (`download_ref` / `gwaslab download ref`). This dataset replaces the previous Dropbox hosting for GWASLab-processed panels. Official dbSNP VCFs, UCSC FASTA, Ensembl/RefSeq GTF, and liftOver chains stay at their original hosts.
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+
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+ Package catalog: [`reference.json`](https://github.com/Cloufield/gwaslab/blob/main/src/gwaslab/data/reference.json). Checksums for every file in this repo are in [`md5sum.txt`](md5sum.txt).
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+
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+ ## Download with GWASLab
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+
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+ ```python
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+ import gwaslab as gl
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+
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+ gl.download_ref("1kg_eas_hg19")
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+ print(gl.get_path("1kg_eas_hg19"))
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+ ```
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+
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+ ```bash
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+ gwaslab download ref 1kg_eas_hg19
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+ gwaslab path 1kg_eas_hg19
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+ ```
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+
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+ Direct Hub URL (basename is the local filename `download_ref` writes):
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+
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+ `https://huggingface.co/datasets/Cloufield/gwaslab-reference/resolve/main/1kg/hg19/EAS.ALL.split_norm_af.1kgp3v5.hg19.vcf.gz`
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+
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+ ## Layout
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+
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+ | Path | GWASLab keyword(s) | Use |
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+ |------|--------------------|-----|
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+ | `1kg/hg19/*.vcf.gz` (+ `.tbi`) | `1kg_{afr,amr,eas,eur,pan,sas}_hg19` | LD / strand / AF (1KGP3v5, hg19) |
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+ | `1kg/hg38/*.vcf.gz` (+ `.tbi`) | `1kg_{afr,amr,eas,eur,pan,sas}_hg38` | LD / strand / AF (1KG 30x, hg38) |
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+ | `rsid/1kg_dbsnp151_*_auto.txt.gz` | `1kg_dbsnp151_hg19_auto`, `1kg_dbsnp151_hg38_auto` | SNPID–rsID tables (autosomes) |
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+ | `eaf/PAN.hapmap3.*.EAF.tsv.gz` | `1kg_hm3_hg19_eaf`, `1kg_hm3_hg38_eaf` | HapMap3 EAF for ancestry |
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+ | `recombination/recombination_hg*.tar.gz` | `recombination_hg19`, `recombination_hg38` | Regional recombination tracks |
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+ | `examples/t2d_bbj.txt.gz` | *(not a catalog keyword)* | Tutorial BBJ T2D sumstats |
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+
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+ Ancestries: AFR, AMR, EAS, EUR, SAS, PAN (all 1KG super-populations combined). Multi-allelic variants were decomposed and normalized; INFO includes population `AF`.
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+
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+ ## Processing
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+
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+ 1KG VCFs were processed by GWASLab for regional LD plots and strand inference. They are not a substitute for the official 1000 Genomes release files.
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+
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+ ## Citations
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+
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+ - **GWASLab:** He Y, Koido M, Shimmori Y, Kamatani Y. GWASLab: a Python package for processing and visualizing GWAS summary statistics. Jxiv (2023). https://doi.org/10.51094/jxiv.305
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+ - **1000 Genomes Project:** The 1000 Genomes Project Consortium. A global reference for human genetic variation. *Nature* (2015). 30x high-coverage data: Byrska-Bishop et al., *Cell* (2022).
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+ - **HapMap recombination maps:** International HapMap Consortium.
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+ - **BBJ T2D example:** Suzuki K et al. Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population. *Nat Genet* (2019). Source: http://jenger.riken.jp/
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+
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+ Redistribute and cite the original consortia terms for 1KG, HapMap, dbSNP-derived tables, and BBJ summary statistics.
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md5sum.txt ADDED
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+ # 1KG hg19 VCF
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+ b486381ac2e475381e8184b2c7c165e4 1kg/hg19/AFR.ALL.split_norm_af.1kgp3v5.hg19.vcf.gz
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+ f9daa2144063c327006e4cffcae21510 1kg/hg19/AMR.ALL.split_norm_af.1kgp3v5.hg19.vcf.gz
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+ 6162a93cb80935168c0bfa519748b054 1kg/hg19/EAS.ALL.split_norm_af.1kgp3v5.hg19.vcf.gz
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+ 2c78cb84cb1f90b576510decc45e5b9b 1kg/hg19/EUR.ALL.split_norm_af.1kgp3v5.hg19.vcf.gz
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+ 8f9eca55f9fc25e2a58a013a1ae0a9af 1kg/hg19/PAN.ALL.split_norm_af.1kgp3v5.hg19.vcf.gz
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+ fdf1c9831d74ae8e9c3960865cf7c22c 1kg/hg19/SAS.ALL.split_norm_af.1kgp3v5.hg19.vcf.gz
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+
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+ # 1KG hg38 VCF
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+ f1e0657ee7549915e5bde2f6324b0e57 1kg/hg38/AFR.ALL.split_norm_af.1kg_30x.hg38.vcf.gz
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+ f4109fc1e23c0eb62762caaf4bed24d5 1kg/hg38/AMR.ALL.split_norm_af.1kg_30x.hg38.vcf.gz
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+ 5360451ef7f31cb44471144e427e6cfe 1kg/hg38/EAS.ALL.split_norm_af.1kg_30x.hg38.vcf.gz
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+ 9e1aa56d8b843fef724b67e23932c95b 1kg/hg38/EUR.ALL.split_norm_af.1kg_30x.hg38.vcf.gz
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+ 32e160c40d5463befff35ab6e1310349 1kg/hg38/PAN.ALL.split_norm_af.1kg_30x.hg38.vcf.gz
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+ 59fbbf0f30a7ad2f13a04b035e5dc373 1kg/hg38/SAS.ALL.split_norm_af.1kg_30x.hg38.vcf.gz
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+
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+ # tabix indexes
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+ 1a49d63b73fc1cc243bb1932b6c7690d 1kg/hg19/AFR.ALL.split_norm_af.1kgp3v5.hg19.vcf.gz.tbi
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+ 2eea9760f51c62c234935bd0a9b12e6b 1kg/hg19/AMR.ALL.split_norm_af.1kgp3v5.hg19.vcf.gz.tbi
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+ 0851e30153abe5ce8caefadbd421b678 1kg/hg19/EAS.ALL.split_norm_af.1kgp3v5.hg19.vcf.gz.tbi
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+ 3f0dec75d1c4ead3fb6dbee83696e3b8 1kg/hg19/EUR.ALL.split_norm_af.1kgp3v5.hg19.vcf.gz.tbi
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+ 02deef47840eee2beb81bb91098a0517 1kg/hg19/PAN.ALL.split_norm_af.1kgp3v5.hg19.vcf.gz.tbi
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+ e13f282d76fe62b58f67cc9ac88e8440 1kg/hg19/SAS.ALL.split_norm_af.1kgp3v5.hg19.vcf.gz.tbi
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+ 41caa99dc9ef1760a2aef7592c474d5f 1kg/hg38/AFR.ALL.split_norm_af.1kg_30x.hg38.vcf.gz.tbi
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+ d2fb51f54951708b08a4986c50705c1b 1kg/hg38/AMR.ALL.split_norm_af.1kg_30x.hg38.vcf.gz.tbi
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+ 81991f2229546b6aff0a54abf6215ef7 1kg/hg38/EAS.ALL.split_norm_af.1kg_30x.hg38.vcf.gz.tbi
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+ 37682637bc74ac49e98a317d063800eb 1kg/hg38/EUR.ALL.split_norm_af.1kg_30x.hg38.vcf.gz.tbi
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+ 4bdf8242ae376dc3d6ba16e6e2dbcfa0 1kg/hg38/PAN.ALL.split_norm_af.1kg_30x.hg38.vcf.gz.tbi
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+ 237438ed7ff2862ab43fb138f712aabc 1kg/hg38/SAS.ALL.split_norm_af.1kg_30x.hg38.vcf.gz.tbi
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+
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+ # rsID tables
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+ 7d1e7624fb6e4df7a2f6f05558d436b4 rsid/1kg_dbsnp151_hg19_auto.txt.gz
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+ 4c7ef2d2415c18c286219e970fdda972 rsid/1kg_dbsnp151_hg38_auto.txt.gz
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+
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+ # HapMap3 EAF
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+ ee95afbfb1899849f91fdb55fae8e567 eaf/PAN.hapmap3.hg19.EAF.tsv.gz
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+ 6d41ce4af02711a532c19f1b1a5911c2 eaf/PAN.hapmap3.hg38.EAF.tsv.gz
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+
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+ # recombination maps
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+ 038255f22a8664d44f9fb907cfec3f4e recombination/recombination_hg19.tar.gz
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+ dbeca47a92cfff4fd13aa217e21957e3 recombination/recombination_hg38.tar.gz
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+
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+ # example sumstats
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+ 67f9d8f49e75a8e2a9d38edf8800ebb9 examples/t2d_bbj.txt.gz
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