need 1000 genomes data for just one gene

[michelle.lupton]

Dear all,

I am a bit stuck trying to access the 1000 genomes data. I just have one candidate gene that I have sequenced and identified some novel SNPs. I want to check if these SNP have been identified already in the 1000 genomes data.

Is the data shown on the browser just from the pilot 1 release? If so is there a way of viewing the allele frequencies in the pilot 2 for identified SNPs without downloading raw data?

I sure this would be very quick, I'm afraid I am a bit lost looking at the web site.

Thanks for your help,
Michelle

[bioinfosm]

You could try using the SeattleSeq database. It takes as input a list of variant coordinates, and reports back if some of them were found in (some freeze of) 1000genomes results.

[lh3]

samtools view -bo sample1.bam ftp://ftp-trace.nih.gov/....../sample1.bam 10:10,000-20,000

Using a URL as the file name, you can "download" the alignment around a target gene without downloading the full alignments, which amount to >20TB for the main project.

It would be better if someone is willing to write a web service.

[steven]

Is this data available from the UCSC table browser? In the SNPs track of the Variations and Repeats group, i can see a "valid does/does not include by-1000genomes" option when i click on "Create Filter".

[Firebird]

Hello,

I want to do the same like michelle.lupton with SNPs I found. I used the samtools and the view comand.
My problem is that I need an automated function to check all data from all individuals, becuase I can't type the path for every individual in samtools.
Can i give samtools a list of paths?

Thanks!

[lh3]

If you want SNPs, go to the 1KG ftp. There are VCFs for each population. They are SNP calls.

[gglusman]

I've recently built a very condensed data structure encoding known single nucleotide variations from a number of sources, and then wrote a very simple tool for querying this and getting answers to the question: has this variant been seen already (and if so, in which personal genome or population).

You're welcome to give it a try:

http://db.systemsbiology.net/gestalt/cgi-pub/Kaviar.pl

Suggestions for improvement are welcome.

[xguo]

I've recently built a very condensed data structure encoding known single nucleotide variations from a number of sources, and then wrote a very simple tool for querying this and getting answers to the question: has this variant been seen already (and if so, in which personal genome or population).

You're welcome to give it a try:

http://db.systemsbiology.net/gestalt/cgi-pub/Kaviar.pl

Suggestions for improvement are welcome.

Your tool looks very useful. Now dbSNP131 is out. Is it possible to update your site with the new version of dbSNP? Is there an easy way to do a batch query or install it locally?

thanks

[BetterPrimate]

I've recently built a very condensed data structure encoding known single nucleotide variations from a number of sources, and then wrote a very simple tool for querying this and getting answers to the question: has this variant been seen already (and if so, in which personal genome or population).

You're welcome to give it a try:

http://db.systemsbiology.net/gestalt/cgi-pub/Kaviar.pl

That looks very interesting. I see that the webpage says there are 26,520,897 variants. Over at Hapmart there are 26,291,751. Is your database a superset of Hapmart or are there extra SNPs to be found in HapMart?

[gglusman]

Is it possible to update your site with the new version of dbSNP?

I just updated it to v. 131 of dbSNP.
The updated data structure includes ~29.4 million variants.

Is your database a superset of Hapmart or are there extra SNPs to be found in HapMart?

I haven't compared it to HapMart's data, sorry.

[laura]

Dear all,

I am a bit stuck trying to access the 1000 genomes data. I just have one candidate gene that I have sequenced and identified some novel SNPs. I want to check if these SNP have been identified already in the 1000 genomes data.

Is the data shown on the browser just from the pilot 1 release? If so is there a way of viewing the allele frequencies in the pilot 2 for identified SNPs without downloading raw data?

I sure this would be very quick, I'm afraid I am a bit lost looking at the web site.

Thanks for your help,
Michelle

What data are you after?

If you want the snp calls you should look at the recent release made in July

ftp://ftp.1000genomes.ebi.ac.uk/vol1...lease/2010_07/

The readme explains what this release contains

ftp://ftp.1000genomes.ebi.ac.uk/vol1...010_07_release

Once you download the vcf files which contain the variant calls then

http://vcftools.sourceforge.net/

should help you to extract the data you need from these files

If you only want variants for a specific region of the genome you don't even have to download the whole file you could use the tabix program which comes from https://sourceforge.net/projects/samtools/files/ to download a subsection of the files like this

tabix ftp://ftp.1000genomes.ebi.ac.uk/vol1...notypes.vcf.gz 1:233411980:245804116

[tumorim]

download the three 1000G files from http://www.openbioinformatics.org/an..._download.html

Then suppose you gene is in region chr1:1000-2000, just do

perl -ne 'm/(\d+)\t(\d+)/ and $1 eq "1" and $2>=1000 and $2<=2000 and print' < hg18_CEU.sites.2010_03.txt

You'll get all variants in CEU population. Do the same for YRI/ASN.

Of course you can also download the whole ANNOVAR program and run on your variants with many more functionality, such as filtering against dbSNP130 or dbSNP 131.