Esempio n. 1
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 def setUp(self):
     reference_db = pymongo.MongoClient()['xbrowse_reference']
     self.reference = Reference(reference_db,
                                ensembl_db_port=3001,
                                ensembl_db_user="******")
     gene_id = self.reference.get_gene_id_from_symbol('RYR1')
     self.gene = self.reference.get_gene(gene_id)
Esempio n. 2
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 def setUp(self):
     reference_db = pymongo.Connection().xbrowse_reference
     self.reference = Reference(reference_db,
                                ensembl_db_port=3001,
                                ensembl_db_user="******")
     gene_id = self.reference.get_gene_id_from_symbol('RYR1')
     self.gene = self.reference.get_gene(gene_id)
Esempio n. 3
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class RYR1Tests(unittest.TestCase):
    def setUp(self):
        reference_db = pymongo.MongoClient()['xbrowse_reference']
        self.reference = Reference(reference_db,
                                   ensembl_db_port=3001,
                                   ensembl_db_user="******")
        gene_id = self.reference.get_gene_id_from_symbol('RYR1')
        self.gene = self.reference.get_gene(gene_id)

    def test_biotype(self):
        self.assertEqual(self.gene['biotype'], 'protein_coding')

    def test_description(self):
        self.assertEqual(
            self.gene['description'],
            'ryanodine receptor 1 (skeletal) [Source:HGNC Symbol;Acc:10483]')

    def test_symbol(self):
        self.assertEqual(self.gene['symbol'], 'RYR1')

    def test_num_transcripts(self):
        self.assertEqual(len(self.gene['transcripts']), 13)

    def test_num_exons(self):
        self.assertEqual(len(self.gene['exons']), 158)
Esempio n. 4
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class ReferenceTests(unittest.TestCase):

    def setUp(self):
        reference_db = pymongo.Connection().xbrowse_reference
        self.reference = Reference(reference_db, ensembl_db_port=3001, ensembl_db_user="******")

    def test_num_genes(self):
        self.assertEqual(len(self.reference._get_all_gene_ids()), 30585)

    def test_symbol_lookup(self):
        self.assertEqual(self.reference.get_gene_id_from_symbol('RYR1'), 'ENSG00000196218')

    def test_symbol_lookup_lower(self):
        self.assertEqual(self.reference.get_gene_id_from_symbol('ryr1'), 'ENSG00000196218')

    def test_id_lookup(self):
        self.assertEqual(self.reference.get_gene_symbol('ENSG00000196218'), 'RYR1')
Esempio n. 5
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    def setUp(self):
        reference_db = pymongo.MongoClient()['xbrowse_reference']
        self.reference = Reference(reference_db, ensembl_db_port=3001, ensembl_db_user="******")

        annotator_db = pymongo.MongoClient()['xbrowse_annotator']
        self.annotator = VariantAnnotator(annotator_db, self.reference)

        self.populations = ['g1k_all', 'esp_ea', 'esp_aa', 'atgu_controls']
Esempio n. 6
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class ReferenceTests(unittest.TestCase):
    def setUp(self):
        reference_db = pymongo.MongoClient()['xbrowse_reference']
        self.reference = Reference(reference_db,
                                   ensembl_db_port=3001,
                                   ensembl_db_user="******")

    def test_num_genes(self):
        self.assertEqual(len(self.reference._get_all_gene_ids()), 30585)

    def test_symbol_lookup(self):
        self.assertEqual(self.reference.get_gene_id_from_symbol('RYR1'),
                         'ENSG00000196218')

    def test_symbol_lookup_lower(self):
        self.assertEqual(self.reference.get_gene_id_from_symbol('ryr1'),
                         'ENSG00000196218')

    def test_id_lookup(self):
        self.assertEqual(self.reference.get_gene_symbol('ENSG00000196218'),
                         'RYR1')
Esempio n. 7
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class RYR1Tests(unittest.TestCase):

    def setUp(self):
        reference_db = pymongo.Connection().xbrowse_reference
        self.reference = Reference(reference_db, ensembl_db_port=3001, ensembl_db_user="******")
        gene_id = self.reference.get_gene_id_from_symbol('RYR1')
        self.gene = self.reference.get_gene(gene_id)

    def test_biotype(self):
        self.assertEqual(self.gene['biotype'], 'protein_coding')

    def test_description(self):
        self.assertEqual(self.gene['description'], 'ryanodine receptor 1 (skeletal) [Source:HGNC Symbol;Acc:10483]')

    def test_symbol(self):
        self.assertEqual(self.gene['symbol'], 'RYR1')

    def test_num_transcripts(self):
        self.assertEqual(len(self.gene['transcripts']), 13)

    def test_num_exons(self):
        self.assertEqual(len(self.gene['exons']), 158)
Esempio n. 8
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class InternalLookupsTests(unittest.TestCase):
    """
    Test the different internal methods that query ensembl db and rest api
    """
    def setUp(self):
        reference_db = pymongo.Connection().xbrowse_reference
        self.reference = Reference(reference_db, ensembl_db_port=3001, ensembl_db_user="******")

    def test_phenotype_info(self):
        p = self.reference._get_ensembl_phenotype_info('ENSG00000196218')
        self.assertEqual(p['mim_id'], '180901')
        self.assertEqual(len(p['mim_phenotypes']), 4)
        self.assertEqual(len(p['orphanet_phenotypes']), 7)
Esempio n. 9
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class InternalLookupsTests(unittest.TestCase):
    """
    Test the different internal methods that query ensembl db and rest api
    """
    def setUp(self):
        reference_db = pymongo.MongoClient()['xbrowse_reference']
        self.reference = Reference(reference_db,
                                   ensembl_db_port=3001,
                                   ensembl_db_user="******")

    def test_phenotype_info(self):
        p = self.reference._get_ensembl_phenotype_info('ENSG00000196218')
        self.assertEqual(p['mim_id'], '180901')
        self.assertEqual(len(p['mim_phenotypes']), 4)
        self.assertEqual(len(p['orphanet_phenotypes']), 7)
Esempio n. 10
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 def setUp(self):
     reference_db = pymongo.Connection().xbrowse_reference
     self.reference = Reference(reference_db, ensembl_db_port=3001, ensembl_db_user="******")
Esempio n. 11
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 def setUp(self):
     reference_db = pymongo.MongoClient()['xbrowse_reference']
     self.reference = Reference(reference_db, ensembl_db_port=3001, ensembl_db_user="******")
     gene_id = self.reference.get_gene_id_from_symbol('RYR1')
     self.gene = self.reference.get_gene(gene_id)
Esempio n. 12
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 def setUp(self):
     reference_db = pymongo.Connection().xbrowse_reference
     self.reference = Reference(reference_db,
                                ensembl_db_port=3001,
                                ensembl_db_user="******")
Esempio n. 13
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import os
os.environ['DJANGO_SETTINGS_MODULE'] = 'settings'
import django
django.setup()

import pymongo
from xbrowse.reference import Reference
from xbrowse.annotation import VariantAnnotator
from xbrowse.coverage import CoverageDatastore
from xbrowse.datastore import MongoDatastore
import reference_settings
import annotator_settings
from xbrowse_server.base.models import Project, Family, Individual
reference_db = pymongo.MongoClient('xbrowse_reference')
reference = Reference(reference_settings)

annotator_db = pymongo.MongoClient('xbrowse_annotator')
annotator = VariantAnnotator(annotator_settings, reference)
annotator._ensure_indices()

datastore_db = pymongo.MongoClient('xbrowse_datastore')
datastore = MongoDatastore(datastore_db, annotator)

user_ns = {
    'annotator': annotator,
    'datastore': datastore,
    'Project': Project,
    'Family': Family,
    'Individual': Individual,
}
Esempio n. 14
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 def setUp(self):
     reference_db = pymongo.MongoClient()['xbrowse_reference']
     self.reference = Reference(reference_db,
                                ensembl_db_port=3001,
                                ensembl_db_user="******")
Esempio n. 15
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 def setUp(self):
     reference_db = pymongo.Connection().xbrowse_reference
     self.reference = Reference(reference_db, ensembl_db_port=3001, ensembl_db_user="******")
     gene_id = self.reference.get_gene_id_from_symbol('RYR1')
     self.gene = self.reference.get_gene(gene_id)
Esempio n. 16
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File: shell.py Progetto: rpete/seqr
#!/usr/bin/env python

import pymongo

from xbrowse.reference import Reference
from xbrowse.annotation import VariantAnnotator
from xbrowse.coverage import CoverageDatastore
from xbrowse.datastore import MongoDatastore

reference_db = pymongo.Connection()['xbrowse_reference']
reference = Reference(reference_db,
                      ensembl_db_host='useastdb.ensembl.org',
                      ensembl_db_user="******")

annotator_db = pymongo.Connection()['xbrowse_annotator']
annotator = VariantAnnotator(annotator_db, reference)
annotator._ensure_indices()

coverage_db = pymongo.Connection()['xbrowse_coverage']
coverage_store = CoverageDatastore(coverage_db, reference)

datastore_db = pymongo.Connection()['xbrowse_datastore']
datastore = MongoDatastore(datastore_db, annotator)

user_ns = {
    'reference': reference,
    'annotator': annotator,
    'coverage_store': coverage_store,
    'datastore': datastore,
}
Esempio n. 17
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# data files
REFERENCEDATA_DIR = '/home/vagrant/server_files/'
HGMD_OMIM_FILE = REFERENCEDATA_DIR + 'hgmd_omim_genes.txt'
REFSEQ_DESCRIPTION_FILE = REFERENCEDATA_DIR + "refseq_descriptions.txt"
ESP_TARGET_FILE = REFERENCEDATA_DIR + 'esp_target.interval_list'

#
# xbrowse stuff
#

SETTINGS_DIR = '/opt/xbrowse/'

reference_settings = imp.load_source('reference_settings',
                                     SETTINGS_DIR + 'reference_settings.py')
REFERENCE = Reference(reference_settings)

population_frequency_store_settings = imp.load_source(
    'popfreq_store_settings', SETTINGS_DIR + 'popfreq_store_settings.py')
POPULATION_FREQUENCY_STORE = PopulationFrequencyStore(
    population_frequency_store_settings)

vep_settings = imp.load_source('vep_settings',
                               SETTINGS_DIR + 'vep_settings.py')
VEP_ANNOTATOR = HackedVEPAnnotator(vep_settings)

annotator_settings = imp.load_source('annotator_settings',
                                     SETTINGS_DIR + 'annotator_settings.py')
ANNOTATOR = VariantAnnotator(
    settings_module=annotator_settings,
    reference=REFERENCE,
Esempio n. 18
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File: mall.py Progetto: zmcv/seqr
def get_reference():
    global _reference
    if _reference is None:
        _reference = Reference(settings.REFERENCE_SETTINGS)
    return _reference
Esempio n. 19
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 def setUp(self):
     reference_db = pymongo.MongoClient()['xbrowse_reference']
     self.reference = Reference(reference_db, ensembl_db_port=3001, ensembl_db_user="******")