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Merge pull request #977 from dglemos/update_var_synonyms_111
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nuno-agostinho committed Apr 12, 2023
2 parents c86f72d + 5db8b60 commit 290f78d
Showing 1 changed file with 43 additions and 9 deletions.
52 changes: 43 additions & 9 deletions scripts/import/import_variant_synonyms
Original file line number Diff line number Diff line change
Expand Up @@ -70,6 +70,7 @@ usage() if($source_name eq 'EVA' && !$data_file);

$species ||= 'homo_sapiens';

die("ERROR: source 'rat' can only be used for species rat\n") if($source_name eq 'rat' && $species !~ /rat/);

my $reg = 'Bio::EnsEMBL::Registry';
$reg->load_all($registry_file);
Expand Down Expand Up @@ -194,7 +195,7 @@ elsif($source_name eq 'EVA') {
}

elsif($source_name eq 'pig_chip') {
my $int_dba = $reg->get_DBAdaptor('multi', 'intvar') || warn "Error getting intvar db adaptor\n";;
my $int_dba = $reg->get_DBAdaptor('multi', 'intvar') or die "Error getting intvar db adaptor\n";;

# Source Pig SNP Consortium
my %source_data = (
Expand All @@ -210,6 +211,39 @@ elsif($source_name eq 'pig_chip') {
add_synonym_pig_chip($species, $dba, $int_dba, $source->dbID());
}

elsif($source_name eq 'rat') {
my $variation_adaptor = $dba->get_VariationAdaptor($species, 'variation');

my $old_dbc = Bio::EnsEMBL::DBSQL::DBConnection->new
( '-host' => $host,
'-port' => $port,
'-user' => $user,
'-pass' => '',
'-dbname' => $db_name,
'-driver' => 'mysql'
);

my $sql_syn_query = "SELECT vs.variation_id, vs.source_id, vs.name
FROM variation_synonym vs
LEFT JOIN source s ON s.source_id = vs.source_id
WHERE s.name LIKE 'ENSEMBL:%'";

my $synonyms_output = query_synonyms_data($old_dbc, $sql_syn_query);

my $synonym_ins_sth = $variation_adaptor->dbc->prepare(qq[ INSERT IGNORE INTO variation_synonym (variation_id, name, source_id) VALUES (?,?,?) ]);

foreach my $synonym(@{$synonyms_output}){
my $var = $variation_adaptor->fetch_by_dbID($synonym->[0]);
if(defined $var){
$synonym_ins_sth->execute( $var->dbID, $synonym->[2], $synonym->[1] );
}
else{
warn "Variant ", $synonym->[0], " not found\n" if($DEBUG);
}
}

}

else{
die "data source : $source_name not supported\n";
}
Expand Down Expand Up @@ -437,7 +471,7 @@ sub add_synonyms_uniprot {
foreach my $rs_id (keys %{$synonyms}) {
my $variation = $variation_adaptor->fetch_by_name($rs_id);
unless($variation){
warn "Variant $rs_id not found\n";
warn "Variant $rs_id not found\n" if($DEBUG);
next;
}

Expand Down Expand Up @@ -551,7 +585,7 @@ sub import_synonyms {

my $var = $variation_adaptor->fetch_by_name($var_name);
unless($var){
warn "variant $var_name not found\n";
warn "variant $var_name not found\n" if($DEBUG);
next;
}
$var->add_synonym($source->name(), $synonyms->{$var_name});
Expand Down Expand Up @@ -579,7 +613,7 @@ sub import_synonyms_all_sources {
my $var = $variation_adaptor->fetch_by_name($var_name);

unless($var) {
warn "variant $var_name not found\n";
warn "variant $var_name not found\n" if($DEBUG);
next;
}

Expand Down Expand Up @@ -620,7 +654,7 @@ sub add_synonym_pig_chip {
$synonym_ins_sth->execute( $var->dbID, $synonym->[1], $source_id );
}
else{
warn "Variant $synonym->[0] not found\n";
warn "Variant $synonym->[0] not found\n" if($DEBUG);
}
}
}
Expand Down Expand Up @@ -747,15 +781,15 @@ sub usage{
die "\nUsage : import_variant_synonyms -registry [registry file] -source_name [name]
\n\tOptions:
\t -data_file [name of file to load] - mandatory for EVA
\t -source_name [source] - 'PharmGKB', 'dbSNP', 'UniProt', 'EVA' or 'pig_chip'
\t -source_name [source] - 'PharmGKB', 'dbSNP', 'UniProt', 'EVA', 'pig_chip' or 'rat'
\t -source_version [version]
\t -source_url [url]
\t -source_description [longer description]
\t -species [species] - defaults to human
\t -registry [registry file]
\t -db_name [production db name]
\t -host [production db host]
\t -port [production db port]
\t -db_name [db name; production db for dbSNP]
\t -host [db host; production db for dbSNP]
\t -port [db port; production db for dbSNP]
\t -user [user]
\t -pass [pass]
\t -clean - remove old data\n\n";
Expand Down

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