Hi Peixe! Thank you very much for this very interesting web-app!! Just gave it a try - unfortunately there's only data from 1000Genomes Pilot 1 not but not from 1000Genomes Phase 1. Otherwise a very cool and fast application!
Hi all!
Just found this entry: Retrieving All Available Frequency Data For A Snp Using Ensembl Api Tools which is very close to what i need. Similar to Krisr I would like to retrieve all population frequency data available from 1000Genomes phase 1 for a SNP, if possible via SQL.
Ensembls Biomart provides minor allele information for the ALL superpopulation only. Pierre Lindenbaum's solution is almost getting me to the desired result - but when I run the sql statement (on homosapiensvariation6937), I only get results from 1000Genoms:pilot_1 - not from phase1.
select distinct V.name, S.handle, A.frequency, M.name, F.allele_string
from ( allele as A, variation as V, subsnp_handle as S, variation_feature as F ) left join sample as M
on (M.sample_id = A.sample_id )
where
V.variation_id=A.variation_id and
S.subsnp_id =A.subsnp_id and
F.variation_id=V.variation_id and
V.name="rs3"
order by 2;
Any suggestions where I could find this data? Alternatively: is there a way to get the sql statements from bioperl - since Bert Overduin provided a nice perl-script (need sql for my workflow) ?
2 answers
This isn't an SQL solution but it will do the trick.
use tabix and point it at this file:
#CHROM POS ID REF ALT QUAL FILTER INFO
1 10523 . TCCG T 152 PASS VT=INDEL;RSQ=0.5246;ERATE=0.0023;AN=2184;AA=.;THETA=0.0172;AC=5;AVGPOST=0.9954;LDAF=0.0045;AF=0.00;AMR_AF=0.00;AFR_AF=0.01
AF= global allele freq
AMR_AF = AMR population
ect...
Hi Zev! Thank you very much for your answer! Found this approach also in a previous question (Getting Allele Frequencies From 1000 Genomes. Wasn't aware of the ftp file you mentioned though. I gave it a try, the query time was about 5 seconds (could live with it), but I need all informtions to frequencys as here in the 1000 Genomes table for my pipeline (just an example with a random snp) : http://www.ensembl.org/Homo_sapiens/Variation/Population?db=core;r=12:51419664-51420664;v=rs6580779;vdb=variation;vf=4447658 Are there other locations for querying?
The file is only a couple gigs (~2?). You could just download it and use tabix locally. The tabix index scheme makes querying trivial and very very fast.
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