Download Specific Individuals From Dbsnps?
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11.8 years ago
tcezard ▴ 30

I'm trying to get the variation data from dbSNP for a specific Coriell sample (NA07029) and it is surprisingly difficult. I can find the sample individual report here but there are no information about the variations found in this individuals. I tried downloading the whole dbSNP in vcf hoping to find sample information that I could filter on but there aren't any.

I feel like I'm missing something obvious here

human variation • 2.1k views
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Entering edit mode
11.8 years ago

I found those data in the hapmap database:

$ curl -s "http://hapmap.ncbi.nlm.nih.gov/downloads/genotypes/latest/forward/non-redundant/genotypes_chr1_CEU_r27_nr.b36_fwd.txt.gz" |\
gunzip -c |\
cut -d ' ' -f 1-11,25 |\
verticalize -d ' ' 

>>> 2
$1 rs#       rs10399749
$2 alleles   C/T
$3 chrom     chr1
$4 pos       45162
$5 strand    +
$6 assembly# ncbi_b36
$7 center    perlegen
$8 protLSID  urn:lsid:perlegen.hapmap.org:Protocol:Genotyping_1.0.0:2
$9 assayLSID urn:lsid:perlegen.hapmap.org:Assay:25761.5318498:1
$10 panelLSID urn:lsid:dcc.hapmap.org:Panel:CEPH-30-trios:1
$11 QCcode    QC+
$12 NA07029   CC
<<< 2

>>> 3
$1 rs#       rs4030303
$2 alleles   A/G
$3 chrom     chr1
$4 pos       72434
$5 strand    +
$6 assembly# ncbi_b36
$7 center    sanger
$8 protLSID  urn:lsid:illumina.hapmap.org:Protocol:Golden_Gate_1.0.0:1
$9 assayLSID urn:lsid:sanger.hapmap.org:Assay:4319326:1
$10 panelLSID urn:lsid:dcc.hapmap.org:Panel:CEPH-30-trios:1
$11 QCcode    QC+
$12 NA07029   GG
<<< 3
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Thanks Pierre Exactly what I was looking for

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11.8 years ago
ff.cc.cc ★ 1.3k

This sample is part of the hapmap project. Try the ftp repository here

Genotypes are publicly available.

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