Esempio n. 1
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def test_variant():
  """
  Test the variant class
  """
  variant = setup_variant()
  
  assert variant.document_id == 'institute_genelist_caseid_variantid'
  assert variant.variant_id == generate_md5_key('1_132_A_C'.split('_'))
  assert variant.manual_rank == 5
  assert variant.manual_rank_level == 'high'
Esempio n. 2
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def test_variant():
    """
  Test the variant class
  """
    variant = setup_variant()

    assert variant.document_id == 'institute_genelist_caseid_variantid'
    assert variant.variant_id == generate_md5_key('1_132_A_C'.split('_'))
    assert variant.manual_rank == 5
    assert variant.manual_rank_level == 'high'
Esempio n. 3
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def setup_variant(**kwargs):
    """
  Setup a Variant object
  """
    variant_id = kwargs.get('variant_id', '1_132_A_C')

    variant = Variant(
        document_id=kwargs.get('document_id',
                               'institute_genelist_caseid_variantid'),
        variant_id=generate_md5_key(variant_id.split('_')),
        display_name=variant_id,
        variant_type=kwargs.get('document_id', 'clinical'),
        case_id=kwargs.get('case_id', 'institute1_1'),
        chromosome=kwargs.get('chromosome', '1'),
        position=kwargs.get('position', 132),
        reference=kwargs.get('reference', 'A'),
        alternative=kwargs.get('alternative', 'C'),
        rank_score=kwargs.get('rank_score', 19),
        variant_rank=kwargs.get('variant_rank', 1),
        quality=kwargs.get('quality', 88),
        filters=kwargs.get('filters', ['PASS']),
        institute=kwargs.get('institute', setup_institute()),
        samples=kwargs.get('samples', []),
        genetic_models=kwargs.get('genetic_models', ['AD', 'AD_dn']),
        compounds=kwargs.get('compounds', []),
        genes=kwargs.get('genes', []),
        db_snp_ids=kwargs.get('db_snp_ids', ['rs0001']),
        # Gene ids:
        hgnc_symbols=kwargs.get('hgnc_symbols', ['ADK']),
        ensembl_gene_ids=kwargs.get('ensembl_gene_ids', ['ENSG00000156110']),
        # Frequencies:
        thousand_genomes_frequency=kwargs.get('thousand_genomes_frequency',
                                              0.001),
        exac_frequency=kwargs.get('thousand_genomes_frequency', 0.002),
        local_frequency=kwargs.get('local_frequency', None),
        # Predicted deleteriousness:
        cadd_score=kwargs.get('cadd_score', 22),
        clnsig=kwargs.get('clnsig', 1),
        phast_conservation=kwargs.get('phast_conservation', []),
        gerp_conservation=kwargs.get('gerp_conservation', []),
        phylop_conservation=kwargs.get('phylop_conservation', []),
        # Database options:
        gene_lists=kwargs.get('gene_lists', ['gene_list_1', 'gene_list_2']),
        expected_inheritance=kwargs.get('expected_inheritance', ['AR']),
        manual_rank=kwargs.get('manual_rank', 5),
        acmg_evaluation=kwargs.get('acmg_evaluation', None))

    return variant
Esempio n. 4
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def setup_variant(**kwargs):
  """
  Setup a Variant object
  """
  variant_id = kwargs.get('variant_id', '1_132_A_C')
  
  variant = Variant(
    document_id = kwargs.get('document_id', 'institute_genelist_caseid_variantid'),
    variant_id = generate_md5_key(variant_id.split('_')),
    display_name = variant_id,
    variant_type = kwargs.get('document_id', 'clinical'),
    case_id = kwargs.get('case_id', 'institute1_1'),
    chromosome = kwargs.get('chromosome', '1'),
    position = kwargs.get('position', 132),
    reference = kwargs.get('reference', 'A'),
    alternative = kwargs.get('alternative', 'C'),
    rank_score = kwargs.get('rank_score', 19),
    variant_rank = kwargs.get('variant_rank', 1),
    quality = kwargs.get('quality', 88),
    filters = kwargs.get('filters', ['PASS']),
    institute = kwargs.get('institute', setup_institute()),
    samples = kwargs.get('samples', []),
    genetic_models = kwargs.get('genetic_models', ['AD', 'AD_dn']),
    compounds = kwargs.get('compounds', []),
    genes = kwargs.get('genes', []),
    db_snp_ids = kwargs.get('db_snp_ids', ['rs0001']),
    # Gene ids:
    hgnc_symbols = kwargs.get('hgnc_symbols', ['ADK']),
    ensembl_gene_ids = kwargs.get('ensembl_gene_ids', ['ENSG00000156110']),
    # Frequencies:
    thousand_genomes_frequency = kwargs.get('thousand_genomes_frequency', 0.001),
    exac_frequency = kwargs.get('thousand_genomes_frequency', 0.002),
    local_frequency = kwargs.get('local_frequency', None),
    # Predicted deleteriousness:
    cadd_score = kwargs.get('cadd_score', 22),
    clnsig = kwargs.get('clnsig', 1),
    phast_conservation = kwargs.get('phast_conservation', []),
    gerp_conservation = kwargs.get('gerp_conservation', []),
    phylop_conservation = kwargs.get('phylop_conservation', []),
    # Database options:
    gene_lists = kwargs.get('gene_lists', ['gene_list_1', 'gene_list_2']),
    expected_inheritance = kwargs.get('expected_inheritance', ['AR']),
    manual_rank = kwargs.get('manual_rank', 5),
    acmg_evaluation = kwargs.get('acmg_evaluation', None)
  )

  return variant