def get_mappings(efo_mapping_file, snp_2_gene_file): mappings = SimpleNamespace() mappings.trait_2_efo, mappings.unavailable_efo = \ load_efo_mapping(efo_mapping_file) mappings.consequence_type_dict = \ CT.process_consequence_type_file(snp_2_gene_file) return mappings
def launch_pipeline(clinvar_xml_file, efo_mapping_file, gene_mapping_file, ot_schema_file, dir_out): os.makedirs(dir_out, exist_ok=True) string_to_efo_mappings = load_efo_mapping(efo_mapping_file) variant_to_gene_mappings = CT.process_consequence_type_file( gene_mapping_file) report = clinvar_to_evidence_strings(string_to_efo_mappings, variant_to_gene_mappings, clinvar_xml_file, ot_schema_file, output_evidence_strings=os.path.join( dir_out, EVIDENCE_STRINGS_FILE_NAME)) print(report.collate_report()) report.write_unmapped_terms(dir_out)
def setUpClass(cls): cls.test_crm = get_test_record().measures[0] cls.consequence_type_dict = CT.process_consequence_type_file( config.snp_2_gene_file)
def setUpClass(cls): # A single example ClinVar record cls.test_crm = test_clinvar.get_test_record().measures[0] # Example result from the gene & functional consequence mapping pipeline for several variants cls.consequence_type_dict = CT.process_consequence_type_file( config.snp_2_gene_file)
def setUpClass(cls): cls.consequence_type_dict = CT.process_consequence_type_file( config.snp_2_gene_file)
def setUpClass(cls): cls.test_crm = test_clinvar.get_test_record().measures[0] cls.consequence_type_dict = CT.process_consequence_type_file(config.snp_2_gene_file)
import unittest import json import os import requests import xml.etree.ElementTree as ElementTree from eva_cttv_pipeline.clinvar_xml_utils import ClinVarTrait from eva_cttv_pipeline.evidence_string_generation import clinvar_to_evidence_strings from eva_cttv_pipeline.evidence_string_generation import consequence_type as CT from tests.eva_cttv_pipeline.evidence_string_generation import config EFO_MAPPINGS = clinvar_to_evidence_strings.load_efo_mapping( config.efo_mapping_file) GENE_MAPPINGS = CT.process_consequence_type_file(config.snp_2_gene_file) class GetMappingsTest(unittest.TestCase): @classmethod def setUpClass(cls): cls.efo_mappings = EFO_MAPPINGS cls.gene_mappings = GENE_MAPPINGS def test_efo_mapping(self): self.assertEqual(len(self.efo_mappings), 9) self.assertEqual( self.efo_mappings['renal-hepatic-pancreatic dysplasia 2'][0], ('http://www.orpha.net/ORDO/Orphanet_294415', 'Renal-hepatic-pancreatic dysplasia')) self.assertEqual(