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GWAS summary statistics imputation support data and integration with PrediXcan MASHR

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NIAID Data Ecosystem2026-03-11 收录
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https://zenodo.org/record/3569953
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# GWAS summary statistics imputation, integration with PrediXcan MASHR-M   The file `sample_data.tar` contains all necessary files to perform imputation of GWAS summary statistics to the GTEx v8 QTL data set. It includes 1000 Genomes individuals' genotypes as reference panel. The `.tar` archive, upon uncompression, contains the following: ``` data/ ├── eur_ld.bed.gz ├── gtex_v8_eur_filtered_maf0.01_monoallelic_variants.txt.gz ├── coordinate_map ├── gwas ├── liftover ├── models │   ├── eqtl │   │   └── mashr │   └── sqtl │       └── mashr └── reference_panel_1000G ```   `data/eur_ld.bed.gz` contains definitions of approximately independent LD-regions in hg38 (Berisa-Pickrell regions, lifted over) `data/gtex_v8_eur_filtered_maf0.01_monoallelic_variants.txt.gz` is a snp annotation file, listing all GTEx v8 variants with MAF>0.01 in europeans. `data/coordinate_map` contains precomputed mapping tables that MetaXcan tools can use to convert GWAS' genomic coordinates in GWAS between genome assemblies. `data/gwas` contains a sample GWAS file for the purposes of a tutorial (data obtained from Nikpay et al (Nat Gen 2016) https://www.ncbi.nlm.nih.gov/pubmed/26343387 `data/liftover` contains Liftover chains to map coordinates between human genome assemblies (used by full harmonization tools) `data/models` contains PrediXcan MASHR-M models, and cross-tissue S-MultiXcan LD compilation, from eQTL and sQTL. `data/reference_panel_1000G` contains 1000G hg38 genotypes, in parquet format, to be used by imputation tools.
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2020-02-07
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