[ensembl-dev] VEP ClinVar information

Will McLaren wm2 at ebi.ac.uk
Mon Aug 17 12:16:23 BST 2015


Yes, I'm afraid that's one of the consequences of OMIM being a manually
curated resource - you have to scan the OMIM page by eye to find that sort
of detail.

Will
On 17 Aug 2015 12:09, "Guillermo Marco Puche" <
guillermo.marco at sistemasgenomicos.com> wrote:

> Hi Will,
>
> Awesome! ClinVar is so direct to check $tva->feature_seq with
> $pf->risk_allele.
>
> As you said, for other PhenotypeFeatures like OMIM there's no risk_allele,
> allele_symbol or allele_accession_id.
>
>
>
> *1       2228866 rs387907306     G       A,T *For this case I'm getting
> two OMIM phenotype features I can't "check" if correct since risk_allele
> association provides the OMIM allelic variant number*. *I guess then
> there's no way to associate OMIM phenotype feature to a specific allele.
>
> *# omim_feature: 1*
> phenotype_description: Shprintzen-Goldberg craniosynostosis syndrome
> source_name: OMIM
> external_reference: MIM:164780
> is_significant: 1
> variation allele: A
> The risk allele is: 0004
>
> * # omim_feature: 2*
> phenotype_description: Shprintzen-Goldberg craniosynostosis syndrome
> source_name: OMIM
> external_reference: MIM:164780
> is_significant: 1
> variation allele: A
> The risk allele is: 0005
>
> * # omim_feature: 1*
> phenotype_description: Shprintzen-Goldberg craniosynostosis syndrome
> source_name: OMIM
> external_reference: MIM:164780
> is_significant: 1
> variation allele: T
> The risk allele is: 0004
>
> * # omim_feature: 2*
> phenotype_description: Shprintzen-Goldberg craniosynostosis syndrome
> source_name: OMIM
> external_reference: MIM:164780
> is_significant: 1
> variation allele: T
> The risk allele is: 0005
>
>
>
> Regards,
> Guillermo.
>
> On 17/08/15 10:25, Will McLaren wrote:
>
> Hi Guillermo,
>
> The plugin run() sub-routine is executed for each allele + transcript
> combination; the object is a TranscriptVariationAllele, and you can find to
> which allele you are referring with either $tva->variation_feature_seq() or
> $tva->feature_seq(); these give you the allele relative to the input
> variant and transcript respectively (i.e. the two will differ if the
> transcript is on the reverse strand. See
> http://www.ensembl.org/info/docs/Doxygen/variation-api/classBio_1_1EnsEMBL_1_1Variation_1_1TranscriptVariationAllele.html
>
> The data you return from the run() sub will only appear in the block of
> output for that allele.
>
> If you are retrieving phenotype data from Ensembl, then you may find that
> we don't always have an allele-specific annotation stored. For some
> PhenotypeFeature objects, they will have an attribute "risk_allele",
> "allele_accession_id" or "allele_symbol", but many will not. You may also
> find that due to strand or reporting issues, the sequence in the associated
> allele may not match exactly one of the alleles from the VariationFeature
> or VCF.
>
> Regards
>
> Will
>
> On 14 August 2015 at 14:49, Guillermo Marco Puche <
> guillermo.marco at sistemasgenomicos.com> wrote:
>
>> Dear devs,
>>
>> I would like to know what's the correct way to handle information when
>> multiple alleles appear in a VCF record.
>>
>> For example, Homo_sapiens_clinically_associated.vcf dataset:
>>
>> *1       2228866 rs387907306     G       A,T*
>>
>> Each one of alternative alleles has different OMIM and Clinvar allele
>> info.
>>
>> The plugin code is using the following scope:
>>
>> *sub feature_types {*
>> *    return ['Transcript'];*
>>
>>
>> *} *Is there another feature_type level like Transcript, Allele?
>>
>> I'm trying to solve it with the iteration code you provided me Will:
>>
>> *    foreach my $known_var(@{$vf->{existing} || []}) {*
>> *        foreach my
>> $pf(@{$pfa->fetch_all_by_object_id($known_var->{variation_name})}){*
>> *            #do_stuff*
>> *    }*
>> *}*
>>
>> However this is getting me the phenotype information for both alternative
>> alleles (A and T) (transcript level) and this being wrote in output for
>> every alternative allele consequence twice. So I'm getting phenotype info
>> of A,T written in allele A consequences and in allele T consequences.
>>
>> How can I get the phenotype informartion for each allele sperately? I
>> think Ensembl can handle this since in VCF output consequences are
>> separated not only by transcript but also by alternative allele.
>>
>> Thank you,
>>
>> Best regards,
>> Guillermo.
>>
>>
>>
>> On 26/03/15 12:57, Will McLaren wrote:
>>
>> You will probably see odd behaviour if you mix versions of the script /
>> API / caches / databases. Feel free to experiment, though we can't support
>> such setups obviously.
>>
>> It works fine for me on 75 or 79 (i.e. using "git checkout --release 75"
>> in ensembl-tools, ensembl-variation, ensembl-core)
>>
>> Will
>>
>> On 26 March 2015 at 11:26, Guillermo Marco Puche <
>> guillermo.marco at sistemasgenomicos.com> wrote:
>>
>>> I guess it's a problem with my API installation then.
>>>
>>> If I install latest API(79) and continue to use
>>> variant_effect_predictor.pl from version 75 will it continue working or
>>> I'll get conflicts/weird behaviours?
>>>
>>> Thanks!
>>>
>>> Regards,
>>> Guillermo.
>>>
>>>
>>>
>>> On 26/03/15 11:53, Will McLaren wrote:
>>>
>>> Example output (I set $Data::Dumper::Maxdepth = 1;):
>>>
>>> > echo "rs699" | perl -I ~/Git/guillermo/vep/
>>> variant_effect_predictor.pl -plugin Clinvar -data -force -db 75
>>> 2015-03-26 10:51:38 - Reading input from STDIN (or maybe you forgot to
>>> specify an input file?)...
>>> 2015-03-26 10:51:38 - Starting...
>>> 2015-03-26 10:51:38 - Detected format of input file as id
>>> 2015-03-26 10:51:38 - Read 1 variants into buffer
>>> 2015-03-26 10:51:38 - Checking for existing variations
>>> [===================================================================================================================================================================================================]
>>>  [ 100% ]
>>> 2015-03-26 10:51:38 - Reading transcript data from cache and/or database
>>> [===================================================================================================================================================================================================]
>>>  [ 100% ]
>>> 2015-03-26 10:51:38 - Retrieved 4 transcripts (0 mem, 0 cached, 4 DB, 0
>>> duplicates)
>>> 2015-03-26 10:51:38 - Analyzing chromosome 1
>>> 2015-03-26 10:51:38 - Analyzing variants
>>> [===================================================================================================================================================================================================]
>>>  [ 100% ]
>>> 2015-03-26 10:51:38 - Calculating consequences
>>> $VAR1 = bless( {
>>>                  'adaptor' =>
>>> 'Bio::EnsEMBL::Variation::DBSQL::PhenotypeAdaptor=HASH(0x43c39a8)',
>>>                  'dbID' => '2853',
>>>                  'name' => undef,
>>>                  'description' => 'HYPERTENSION, ESSENTIAL,
>>> SUSCEPTIBILITY TO'
>>>                }, 'Bio::EnsEMBL::Variation::Phenotype' );
>>> $VAR1 = bless( {
>>>                  'adaptor' =>
>>> 'Bio::EnsEMBL::Variation::DBSQL::PhenotypeAdaptor=HASH(0x43c39a8)',
>>>                  'dbID' => '20384',
>>>                  'name' => undef,
>>>                  'description' =>
>>> 'Susceptibility_to_progression_to_renal_failure_in_IgA_nephropathy'
>>>                }, 'Bio::EnsEMBL::Variation::Phenotype' );
>>> $VAR1 = bless( {
>>>                  'adaptor' =>
>>> 'Bio::EnsEMBL::Variation::DBSQL::PhenotypeAdaptor=HASH(0x43c39a8)',
>>>                  'dbID' => '20369',
>>>                  'name' => undef,
>>>                  'description' => 'Preeclampsia,_susceptibility_to'
>>>                }, 'Bio::EnsEMBL::Variation::Phenotype' );
>>> $VAR1 = bless( {
>>>                  'adaptor' =>
>>> 'Bio::EnsEMBL::Variation::DBSQL::PhenotypeAdaptor=HASH(0x43c39a8)',
>>>                  'dbID' => '26451',
>>>                  'name' => undef,
>>>                  'description' =>
>>> 'HYPERTENSION,_ESSENTIAL,_SUSCEPTIBILITY_TO'
>>>                }, 'Bio::EnsEMBL::Variation::Phenotype' );
>>> $VAR1 = bless( {
>>>                  'adaptor' =>
>>> 'Bio::EnsEMBL::Variation::DBSQL::PhenotypeAdaptor=HASH(0x43c39a8)',
>>>                  'dbID' => '1',
>>>                  'name' => 'HGMD_MUTATION',
>>>                  'description' => 'Annotated by HGMD but no phenotype
>>> description is publicly available'
>>>                }, 'Bio::EnsEMBL::Variation::Phenotype' );
>>> $VAR1 = bless( {
>>>                  'adaptor' =>
>>> 'Bio::EnsEMBL::Variation::DBSQL::PhenotypeAdaptor=HASH(0x43c39a8)',
>>>                  'dbID' => '6522',
>>>                  'name' => undef,
>>>                  'description' => 'COSMIC:tumour_site:large_intestine'
>>>                }, 'Bio::EnsEMBL::Variation::Phenotype' );
>>> $VAR1 = bless( {
>>>                  'adaptor' =>
>>> 'Bio::EnsEMBL::Variation::DBSQL::PhenotypeAdaptor=HASH(0x43c39a8)',
>>>                  'dbID' => '6529',
>>>                  'name' => undef,
>>>                  'description' => 'COSMIC:tumour_site:breast'
>>>                }, 'Bio::EnsEMBL::Variation::Phenotype' );
>>> $VAR1 = bless( {
>>>                  'adaptor' =>
>>> 'Bio::EnsEMBL::Variation::DBSQL::PhenotypeAdaptor=HASH(0x43c39a8)',
>>>                  'dbID' => '2853',
>>>                  'name' => undef,
>>>                  'description' => 'HYPERTENSION, ESSENTIAL,
>>> SUSCEPTIBILITY TO'
>>>                }, 'Bio::EnsEMBL::Variation::Phenotype' );
>>> $VAR1 = bless( {
>>>                  'adaptor' =>
>>> 'Bio::EnsEMBL::Variation::DBSQL::PhenotypeAdaptor=HASH(0x43c39a8)',
>>>                  'dbID' => '20384',
>>>                  'name' => undef,
>>>                  'description' =>
>>> 'Susceptibility_to_progression_to_renal_failure_in_IgA_nephropathy'
>>>                }, 'Bio::EnsEMBL::Variation::Phenotype' );
>>> $VAR1 = bless( {
>>>                  'adaptor' =>
>>> 'Bio::EnsEMBL::Variation::DBSQL::PhenotypeAdaptor=HASH(0x43c39a8)',
>>>                  'dbID' => '20369',
>>>                  'name' => undef,
>>>                  'description' => 'Preeclampsia,_susceptibility_to'
>>>                }, 'Bio::EnsEMBL::Variation::Phenotype' );
>>> $VAR1 = bless( {
>>>                  'adaptor' =>
>>> 'Bio::EnsEMBL::Variation::DBSQL::PhenotypeAdaptor=HASH(0x43c39a8)',
>>>                  'dbID' => '26451',
>>>                  'name' => undef,
>>>                  'description' =>
>>> 'HYPERTENSION,_ESSENTIAL,_SUSCEPTIBILITY_TO'
>>>                }, 'Bio::EnsEMBL::Variation::Phenotype' );
>>> $VAR1 = bless( {
>>>                  'adaptor' =>
>>> 'Bio::EnsEMBL::Variation::DBSQL::PhenotypeAdaptor=HASH(0x43c39a8)',
>>>                  'dbID' => '1',
>>>                  'name' => 'HGMD_MUTATION',
>>>                  'description' => 'Annotated by HGMD but no phenotype
>>> description is publicly available'
>>>                }, 'Bio::EnsEMBL::Variation::Phenotype' );
>>> $VAR1 = bless( {
>>>                  'adaptor' =>
>>> 'Bio::EnsEMBL::Variation::DBSQL::PhenotypeAdaptor=HASH(0x43c39a8)',
>>>                  'dbID' => '6522',
>>>                  'name' => undef,
>>>                  'description' => 'COSMIC:tumour_site:large_intestine'
>>>                }, 'Bio::EnsEMBL::Variation::Phenotype' );
>>> $VAR1 = bless( {
>>>                  'adaptor' =>
>>> 'Bio::EnsEMBL::Variation::DBSQL::PhenotypeAdaptor=HASH(0x43c39a8)',
>>>                  'dbID' => '6529',
>>>                  'name' => undef,
>>>                  'description' => 'COSMIC:tumour_site:breast'
>>>                }, 'Bio::EnsEMBL::Variation::Phenotype' );
>>> 2015-03-26 10:51:38 - Processed 1 total variants (1 vars/sec, 1 vars/sec
>>> total)
>>> 2015-03-26 10:51:38 - Wrote stats summary to
>>> variant_effect_output.txt_summary.html
>>> 2015-03-26 10:51:38 - Finished!
>>>
>>> On 26 March 2015 at 10:43, Guillermo Marco Puche <
>>> guillermo.marco at sistemasgenomicos.com> wrote:
>>>
>>>> Hello Will,
>>>>
>>>> I already had enabled "check_existing" on my VEP config template,
>>>> however I followed your advice and updated code to force in the new()
>>>> method with your code.
>>>> I'm still getting no prints of line 64:
>>>>
>>>> print Dumper($pf->phenotype());
>>>>
>>>> Are you getting any output printed? As I said I get no errors but
>>>> nothing is printed neither. This data dumper should be printing result of
>>>> phenotype() method call.
>>>>
>>>> Regards,
>>>> Guillermo.
>>>>
>>>>
>>>>
>>>> On 26/03/15 11:05, Will McLaren wrote:
>>>>
>>>> I think perhaps you haven't enabled --check_existing; this is required
>>>> for $vf->{existing} to get populated.
>>>>
>>>> You can force it on in the new() method of your plugin:
>>>>
>>>> $self->{config}->{check_existing} = 1;
>>>>
>>>> It then works for me on release/75 and release/79.
>>>>
>>>> Will
>>>>
>>>> On 25 March 2015 at 17:35, Guillermo Marco Puche <
>>>> guillermo.marco at sistemasgenomicos.com> wrote:
>>>>
>>>>> Hello Will,
>>>>>
>>>>> With your explanations I'm trying to call phenotype (as you said I was
>>>>> accessing the hashref directly).
>>>>> I'm using input set you linked. However my local Ensembl installation
>>>>> is v75.
>>>>>
>>>>> This is the code of the plugin:
>>>>> https://github.com/guillermomarco/vep/blob/master/Clinvar.pm
>>>>>
>>>>> I'm getting absolutelty no info nor errors. I've no idea if this is an
>>>>> issue with my database/API version or with the plugin code itself.
>>>>>
>>>>> Regards,
>>>>> Guillermo.
>>>>>
>>>>>
>>>>>
>>>>> On 16/03/15 17:50, Will McLaren wrote:
>>>>>
>>>>> The "is_significant" field is an internal flag that doesn't
>>>>> necessarily have the meaning you expect; it is used to distinguish between
>>>>> genuine reported associations and e.g. non-significant associations
>>>>> reported from genome-wide studies.
>>>>>
>>>>> You should not see undef for phenotype; I suspect you are accessing
>>>>> the hashref directly ($pf->{phenotype}) rather than making the method call
>>>>> ($pf->phenotype()).
>>>>>
>>>>> You could try
>>>>> ftp://ftp.ensembl.org/pub/release-79/variation/vcf/homo_sapiens/Homo_sapiens_clinically_associated.vcf.gz
>>>>> as a test input set.
>>>>>
>>>>> Will
>>>>>
>>>>> On 16 March 2015 at 16:39, Guillermo Marco Puche <
>>>>> guillermo.marco at sistemasgenomicos.com> wrote:
>>>>>
>>>>>> Hi Will,
>>>>>>
>>>>>> Thank you for your quick response! Very clarifying.
>>>>>>
>>>>>> I guess that the way to retrieve ClinVar data I posted is correct.
>>>>>> With my test dataset I've only seen "is_significant" values of "1" and
>>>>>> undef 'phenotype' values. I think I need a synthetic vcf with ClinVar
>>>>>> annotation variants to very that the plugin is working.
>>>>>>
>>>>>> I've been looking on Ensembl website for a test dataset. I think you
>>>>>> don't provide any right? Correct me if I'm wrong.
>>>>>>
>>>>>> Thanks!
>>>>>>
>>>>>> Regards,
>>>>>> Guillermo.
>>>>>>
>>>>>>
>>>>>> On 16/03/15 16:16, Will McLaren wrote:
>>>>>>
>>>>>> Hi Guillermo,
>>>>>>
>>>>>> To get the rest of that data in the table you need to access the
>>>>>> additional attributes of the PhenotypeFeature object, something like:
>>>>>>
>>>>>> my $attr = $pfs->[0]->get_all_attributes;
>>>>>> print "$_:".$attr->{$_}."\t" for keys %$attr;
>>>>>> print "\n;
>>>>>>
>>>>>> Regards
>>>>>>
>>>>>> Will
>>>>>>
>>>>>> More info: the reason these data are stored as attributes is due to
>>>>>> the diverse data sources and types that we import into our phenotype
>>>>>> schema; to create a database column and corresponding API method for each
>>>>>> data type (p-value, review status, risk allele, external ID etc etc) would
>>>>>> be cumbersome and inefficient. To this end we provide a few methods that
>>>>>> shortcut the attribute approach for the most common data types; everything
>>>>>> else must be accessed through the attributes method. This is a common theme
>>>>>> across the Ensembl API.
>>>>>>
>>>>>> On 13 March 2015 at 12:03, Guillermo Marco Puche <
>>>>>> guillermo.marco at sistemasgenomicos.com> wrote:
>>>>>>
>>>>>>> Hi,
>>>>>>>
>>>>>>> I'm trying to retrieve ClinVar information with the code example you
>>>>>>> provided.
>>>>>>>
>>>>>>>     my $self = shift;
>>>>>>>     my $tva = shift;
>>>>>>>     my $vf = $tva->variation_feature;
>>>>>>>     my $pfa =
>>>>>>> $self->{config}->{reg}->get_adaptor('human','variation','phenotypefeature');
>>>>>>>
>>>>>>>     foreach my $known_var(@{$vf->{existing} || []}) {
>>>>>>>         foreach my
>>>>>>> $pf(@{$pfa->fetch_all_by_object_id($known_var->{variation_name})}) {
>>>>>>>             if ($pf->{'source'} eq "dbSNP_ClinVar"){
>>>>>>>                 print
>>>>>>> "$pf->{'source'}\t$pf->{'external_id'}\t$pf->{'is_significant'}\t$pf->{'phenotype'}\n",
>>>>>>> ;
>>>>>>>             }
>>>>>>>         }
>>>>>>>     }
>>>>>>>
>>>>>>> As you can see I'm "filtering" the results to only output phenotype
>>>>>>> feature when source is dbSNP_ClinVar. I don't know why but I guess
>>>>>>> filtering should be done when doing the "fetch_all".
>>>>>>>
>>>>>>> On the other hand I'm trying to retrieve Disease, Source and
>>>>>>> Clinical Significance from this example table:
>>>>>>> http://www.ensembl.org/Homo_sapiens/Variation/Phenotype?db=core;r=8:19955518-19956518;v=rs268;vdb=variation;vf=266
>>>>>>>
>>>>>>> I think I'm doing something wrong I got totally lost in
>>>>>>> Phenotypefeature.
>>>>>>>
>>>>>>> Regards,
>>>>>>> Guillermo.
>>>>>>>
>>>>>>>
>>>>>>> On 02/03/15 16:05, Will McLaren wrote:
>>>>>>>
>>>>>>> If you enable the --check_existing flag when you run the VEP, you'll
>>>>>>> be able to see any known co-located variants attached to the
>>>>>>> VariationFeature object in your plugin:
>>>>>>>
>>>>>>> sub run {
>>>>>>>   my $self = shift;
>>>>>>>   my $tva = shift;
>>>>>>>   my $vf = $tva->variation_feature;
>>>>>>>
>>>>>>>   foreach my $known_var(@{$vf->{existing} || []}) {
>>>>>>>      # do stuff
>>>>>>>   }
>>>>>>> }
>>>>>>>
>>>>>>> The $known_var is not an API object but a simple hashref with a
>>>>>>> number of fields; you're probably interested in $known_var->{clin_sig}
>>>>>>>
>>>>>>> However, as I mentioned, this is the only data that is stored in the
>>>>>>> cache. To access the rating and the specific disease association, you'll
>>>>>>> need to make calls to the database by getting an adaptor, something like:
>>>>>>>
>>>>>>> sub run {
>>>>>>>   my $self = shift;
>>>>>>>   my $tva = shift;
>>>>>>>   my $vf = $tva->variation_feature;
>>>>>>>   my $pfa =
>>>>>>> $self->{config}->{reg}->get_adaptor('human','variation','phenotypefeature');
>>>>>>>
>>>>>>>   foreach my $known_var(@{$vf->{existing} || []}) {
>>>>>>>      foreach my
>>>>>>> $pf(@{$pfa->fetch_all_by_object_id($known_var->{variation_name})}) {
>>>>>>>        # do stuff
>>>>>>>      }
>>>>>>>   }
>>>>>>> }
>>>>>>>
>>>>>>> Be aware that this will access the database, so unless you have a
>>>>>>> local copy please don't run this sort of code on genome-wide VCFs using our
>>>>>>> public DB server.
>>>>>>>
>>>>>>> Regards
>>>>>>>
>>>>>>> Will
>>>>>>>
>>>>>>> On 2 March 2015 at 14:47, Guillermo Marco Puche <
>>>>>>> guillermo.marco at sistemasgenomicos.com> wrote:
>>>>>>>
>>>>>>>> Hi Will,
>>>>>>>>
>>>>>>>> Indeed I'm looking to retrieve this information from VEP plugin.
>>>>>>>>
>>>>>>>> Regards,
>>>>>>>> Guillermo.
>>>>>>>>
>>>>>>>>
>>>>>>>> On 02/03/15 15:25, Will McLaren wrote:
>>>>>>>>
>>>>>>>> Hi Guillermo,
>>>>>>>>
>>>>>>>> The detailed ClinVar information is stored against PhenotypeFeature
>>>>>>>> objects (each SNP/disease pairing gets its own entry in ClinVar, e.g.
>>>>>>>> http://www.ncbi.nlm.nih.gov/clinvar/RCV000019691.2,
>>>>>>>> http://www.ncbi.nlm.nih.gov/clinvar/RCV000019692.2/,
>>>>>>>> http://www.ncbi.nlm.nih.gov/clinvar/RCV000019693.2/ for rs699).
>>>>>>>>
>>>>>>>> The rating (and indeed the clinical significance) is stored as an
>>>>>>>> attribute on the PhenotypeFeature object; you can retrieve this with the
>>>>>>>> get_all_attributes() method.
>>>>>>>>
>>>>>>>> See
>>>>>>>> http://www.ensembl.org/info/docs/Doxygen/variation-api/classBio_1_1EnsEMBL_1_1Variation_1_1PhenotypeFeature.html
>>>>>>>> and
>>>>>>>> http://www.ensembl.org/info/docs/api/variation/variation_tutorial.html#phenotype
>>>>>>>> for more info.
>>>>>>>>
>>>>>>>> Bio::EnsEMBL::Variation::Utils::VEP::get_clin_sig() is an internal
>>>>>>>> method that you should not use.
>>>>>>>>
>>>>>>>> The VEP cache contains the list of clinical significance states for
>>>>>>>> each variant, but neither the disease association or the rating. If you
>>>>>>>> want help getting access to this data via a plugin, let me know as it's a
>>>>>>>> little more involved than the API methods above (though it is faster as no
>>>>>>>> database access is required).
>>>>>>>>
>>>>>>>> Regards
>>>>>>>>
>>>>>>>> Will McLaren
>>>>>>>> Ensembl Variation
>>>>>>>>
>>>>>>>> On 2 March 2015 at 14:06, Guillermo Marco Puche <
>>>>>>>> guillermo.marco at sistemasgenomicos.com> wrote:
>>>>>>>>
>>>>>>>>> Dear devs,
>>>>>>>>>
>>>>>>>>> I'm looking forward to retrieve ClinVar information and add it to
>>>>>>>>> VEP annotation. From my understanding I should be able to retrieve
>>>>>>>>> "Clinical significance" and "ClinVar Rating".
>>>>>>>>>
>>>>>>>>> I've been looking the Varation API, and I'm confused. I guess for
>>>>>>>>> significance I should use
>>>>>>>>> Bio::EnsEMBL::Variation::Utils::VEP::get_clin_sig() or
>>>>>>>>> Bio::EnsEMBL::Variation::VariationFeature::get_all_clinical_significance_states().
>>>>>>>>>
>>>>>>>>> What about ClinVar rating? Is it possible to retrieve it from API?
>>>>>>>>>
>>>>>>>>> Thanks!
>>>>>>>>>
>>>>>>>>> Regards,
>>>>>>>>> Guillermo.
>>>>>>>>>
>>>>>>>>>
>>>>>>>>>
>>>>>>>>> _______________________________________________
>>>>>>>>> Dev mailing list    Dev at ensembl.org
>>>>>>>>> Posting guidelines and subscribe/unsubscribe info:
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>>>>>>>>> Ensembl Blog: http://www.ensembl.info/
>>>>>>>>>
>>>>>>>>>
>>>>>>>>
>>>>>>>>
>>>>>> _______________________________________________
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>>>>>>
>>>>>>
>>>>>
>>>>>
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>>>>>
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>>>>>
>>>>
>>>>
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