Add dataset card, checksums, EAF, rsID tables, recombination maps, and example sumstats
Browse files- README.md +61 -2
- eaf/PAN.hapmap3.hg19.EAF.tsv.gz +3 -0
- eaf/PAN.hapmap3.hg38.EAF.tsv.gz +3 -0
- examples/t2d_bbj.txt.gz +3 -0
- md5sum.txt +44 -0
- recombination/recombination_hg19.tar.gz +3 -0
- recombination/recombination_hg38.tar.gz +3 -0
- rsid/1kg_dbsnp151_hg19_auto.txt.gz +3 -0
- rsid/1kg_dbsnp151_hg38_auto.txt.gz +3 -0
README.md
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---
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license: other
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license_name:
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-
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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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# GWASLab reference datasets
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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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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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## Download with GWASLab
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```python
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import gwaslab as gl
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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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```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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Direct Hub URL (basename is the local filename `download_ref` writes):
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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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## Layout
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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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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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## Processing
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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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## Citations
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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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Redistribute and cite the original consortia terms for 1KG, HapMap, dbSNP-derived tables, and BBJ summary statistics.
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eaf/PAN.hapmap3.hg19.EAF.tsv.gz
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version https://git-lfs.github.com/spec/v1
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oid sha256:d8c2223c648bc8edb3a9450ef6a3c30efe58ea8f45201dcb2dc789d4bd8d1342
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size 95008312
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eaf/PAN.hapmap3.hg38.EAF.tsv.gz
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version https://git-lfs.github.com/spec/v1
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oid sha256:682c5cc50432de0f87c25e9d4469914e04e503b03d16b3241491d551563d1b18
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size 93945302
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examples/t2d_bbj.txt.gz
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version https://git-lfs.github.com/spec/v1
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oid sha256:3fe20d6b30cbb3dd0efc042127e58f4d53633b9068138aca2d4059dcf0b6bb61
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size 274187574
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md5sum.txt
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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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# 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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# 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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# 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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# 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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# 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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# example sumstats
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67f9d8f49e75a8e2a9d38edf8800ebb9 examples/t2d_bbj.txt.gz
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recombination/recombination_hg19.tar.gz
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version https://git-lfs.github.com/spec/v1
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oid sha256:ce5cc89697c7f80f02e929c566f70323f5e38cd4a8b68b24a95033c036991717
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size 38719457
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recombination/recombination_hg38.tar.gz
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version https://git-lfs.github.com/spec/v1
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oid sha256:433f1da04a4e62c50851fa97d7d6c5f61bf55e6a6ab3a40913633c591a3aa76a
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size 34092399
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rsid/1kg_dbsnp151_hg19_auto.txt.gz
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version https://git-lfs.github.com/spec/v1
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oid sha256:5d51c118a26adb08f255cff278329ba6ffa7d45fe6d90d6c25dc925d20d2d99c
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size 1007653095
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rsid/1kg_dbsnp151_hg38_auto.txt.gz
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version https://git-lfs.github.com/spec/v1
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oid sha256:8c48997ba0074adb1a6135756d4a81c2796788f51eb00eb02eb03bc844927783
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size 867253596
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