[ensembl-dev] Question regarding MAF
Anja Thormann
anja at ebi.ac.uk
Tue Mar 6 17:19:04 GMT 2018
Hi Duarte,
here is also some example code:
my $va = $registry->get_adaptor('human', 'variation', 'variation');
$va->db->use_vcf(1);
my $variation = $va->fetch_by_name('rs770602');
my @alleles = @{$variation->get_all_Alleles};
foreach my $a (@alleles){
my $freq = $a->frequency;
if (defined $freq) {
my $allele = $a->allele;
my $population = (defined $a->population) ? $a->population->name : 'NA';
print $population, ' ', $allele, ' ', $freq, "\n";
}
}
More information on the Allele object is here http://www.ensembl.org/info/docs/Doxygen/variation-api/classBio_1_1EnsEMBL_1_1Variation_1_1Allele.html <http://www.ensembl.org/info/docs/Doxygen/variation-api/classBio_1_1EnsEMBL_1_1Variation_1_1Allele.html>
HTH,
Anja
> On 6 Mar 2018, at 17:16, Sarah Hunt <seh at ebi.ac.uk> wrote:
>
>
> Hi Duarte,
>
> We store large scale genotype and frequency data in VCF now, so you need to set an extra flag on the API:
> $variation_adaptor->db->use_vcf(1);
>
> to access it. More details are available here:
>
> http://www.ensembl.org/info/docs/api/variation/variation_tutorial.html#ag <http://www.ensembl.org/info/docs/api/variation/variation_tutorial.html#ag>
>
> Best wishes,
>
> Sarah
>
> On 06/03/2018 17:00, Duarte Molha wrote:
>> Hi Guys
>>
>> I am retrieving variations using the API that have a certain value of MAF
>>
>> for example rs770602
>>
>> If you retrieve this variation
>>
>> like so: $vf->minor_allele_frequency
>>
>> it reports a MAF of 0.495807
>>
>> but when I get each allele
>>
>> my @alleles = @{$vf->get_all_Alleles};
>>
>> and I cycle through them, their frequency is undef
>>
>> foreach my $a (@alleles){
>> my $freq = $a->frequency();
>> print $freq;
>> }
>>
>> How do I retrieve the frequency calculated for each individual alleles on the variation?
>>
>> Many thanks
>>
>> Duarte
>>
>>
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