Where to download official reference and alternative alleles from 1000 Genomes?
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3.7 years ago
Mr Locuace ▴ 120

Hello, using Plink 1.9, I merged to cohorts of individuals that were genotyped at the same ~1700000 SNPs. I would like to check if the SNPs are in the same strand. For this, I need a file with the official reference and alternative alleles. Since most of my SNPs intersect with SNPs of 1000 Genomes, I would like to download reference/alternative alleles for these SNPs from 1000 Genomes. However, I am not able to find where can I download this info. Any suggestion would be welcomed !

1000 Genomes reference allele Plink • 1.3k views
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3.7 years ago

See ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/ for 1000 Genomes phase 3 VCFs, and ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20110521/ for phase 1.

Phase 1 plink-formatted files with reference alleles in the 6th .bim column can be downloaded from https://www.cog-genomics.org/plink/1.9/resources#1kg .

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OP Wants to get the reference genome.

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Thanks very much @genomax. Which file would that be?

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See Heng Li's blog post here.

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Thanks very much @genomax !

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