Exemple #1
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def test_delete_case_and_variants(vcf_path, ped_path, real_mongo_adapter,
                                  case_id, case_obj):
    mongo_adapter = real_mongo_adapter
    db = mongo_adapter.db

    load_database(
        adapter=mongo_adapter,
        variant_file=vcf_path,
        family_file=ped_path,
        family_type='ped',
    )

    mongo_case = db.case.find_one()

    assert mongo_case['case_id'] == case_id

    delete(
        adapter=mongo_adapter,
        case_obj=case_obj,
    )

    mongo_case = db.case.find_one()

    assert mongo_case == None

    mongo_variant = db.case.find_one()

    assert mongo_variant == None
Exemple #2
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def insert_case_variants(
    adapter: MongoAdapter,
    case_obj: Case,
) -> None:
    """Load case variants into loqusdb"""

    try:
        insert_snv_variants(adapter=adapter, case_obj=case_obj)
        if not case_obj.vcf_sv_path:
            return
        insert_sv_variants(adapter=adapter, case_obj=case_obj)
    except Exception as e:
        LOG.error(f"{e}")
        delete(adapter=adapter, case_obj=case_obj.dict(), genome_build=settings.genome_build)
        raise
Exemple #3
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def delete_case(case_id: str, db: MongoAdapter = Depends(database)):
    """Delete a specific case given petname ID"""
    existing_case = db.case({"case_id": case_id})
    if not existing_case:
        return JSONResponse(f"Case {case_id} does not exist",
                            status_code=status.HTTP_404_NOT_FOUND)
    try:
        delete(adapter=db,
               case_obj=existing_case,
               genome_build=settings.genome_build)
        return JSONResponse(f"Case {case_id} had been deleted",
                            status_code=status.HTTP_200_OK)
    except Exception as e:
        raise HTTPException(
            status_code=status.HTTP_400_BAD_REQUEST,
            detail=
            f"Error {e.__class__.__name__}: {e}; Case may be partially deleted",
        )
Exemple #4
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def test_delete_structural_variants(vcf_path, ped_path, real_mongo_adapter, case_id, sv_case_obj):

    # GIVEN a mongo adapter with an inserted case with SVs
    mongo_adapter = real_mongo_adapter
    db = mongo_adapter.db

    load_database(
        adapter=mongo_adapter,
        variant_file=sv_case_obj['vcf_path'],
        family_file=ped_path,
        family_type='ped',
        sv_file=sv_case_obj['vcf_sv_path']
    )

    mongo_svs = db.structural_variant.find()
    assert len(list(mongo_svs)) == 19

    # WHEN deleteing the case
    delete(adapter=mongo_adapter, case_obj=sv_case_obj)

    # All structural variants should be deleted.
    mongo_svs = db.structural_variant.find()
    assert len(list(mongo_svs)) == 0
Exemple #5
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def load_database(
    adapter,
    variant_file=None,
    sv_file=None,
    family_file=None,
    family_type="ped",
    skip_case_id=False,
    gq_treshold=None,
    case_id=None,
    max_window=3000,
    profile_file=None,
    hard_threshold=0.95,
    soft_threshold=0.9,
    genome_build=None,
):
    """Load the database with a case and its variants

    Args:
          adapter: Connection to database
          variant_file(str): Path to variant file
          sv_file(str): Path to sv variant file
          family_file(str): Path to family file
          family_type(str): Format of family file
          skip_case_id(bool): If no case information should be added to variants
          gq_treshold(int): If only quality variants should be considered
          case_id(str): If different case id than the one in family file should be used
          max_window(int): Specify the max size for sv windows
          check_profile(bool): Does profile check if True
          hard_threshold(float): Rejects load if hamming distance above this is found
          soft_threshold(float): Stores similar samples if hamming distance above this is found

    Returns:
          nr_inserted(int)
    """
    vcf_files = []

    nr_variants = None
    vcf_individuals = None
    if variant_file:
        vcf_info = check_vcf(variant_file)
        nr_variants = vcf_info["nr_variants"]
        variant_type = vcf_info["variant_type"]
        vcf_files.append(variant_file)
        # Get the indivuduals that are present in vcf file
        vcf_individuals = vcf_info["individuals"]

    nr_sv_variants = None
    sv_individuals = None
    if sv_file:
        vcf_info = check_vcf(sv_file, "sv")
        nr_sv_variants = vcf_info["nr_variants"]
        vcf_files.append(sv_file)
        sv_individuals = vcf_info["individuals"]

    profiles = None
    matches = None
    if profile_file:
        profiles = get_profiles(adapter, profile_file)
        ###Check if any profile already exists
        matches = profile_match(adapter,
                                profiles,
                                hard_threshold=hard_threshold,
                                soft_threshold=soft_threshold)

    # If a gq treshold is used the variants needs to have GQ
    for _vcf_file in vcf_files:
        # Get a cyvcf2.VCF object
        vcf = get_vcf(_vcf_file)

        if gq_treshold and not vcf.contains("GQ"):
            LOG.warning("Set gq-treshold to 0 or add info to vcf {0}".format(
                _vcf_file))
            raise SyntaxError("GQ is not defined in vcf header")

    # Get a ped_parser.Family object from family file
    family = None
    family_id = None
    if family_file:
        LOG.info("Loading family from %s", family_file)
        with open(family_file, "r") as family_lines:
            family = get_case(family_lines=family_lines,
                              family_type=family_type)
            family_id = family.family_id

    # There has to be a case_id or a family at this stage.
    case_id = case_id or family_id
    # Convert infromation to a loqusdb Case object
    case_obj = build_case(
        case=family,
        case_id=case_id,
        vcf_path=variant_file,
        vcf_individuals=vcf_individuals,
        nr_variants=nr_variants,
        vcf_sv_path=sv_file,
        sv_individuals=sv_individuals,
        nr_sv_variants=nr_sv_variants,
        profiles=profiles,
        matches=matches,
        profile_path=profile_file,
    )
    # Build and load a new case, or update an existing one
    load_case(
        adapter=adapter,
        case_obj=case_obj,
    )

    nr_inserted = 0
    # If case was succesfully added we can store the variants
    for file_type in ["vcf_path", "vcf_sv_path"]:
        variant_type = "snv"
        if file_type == "vcf_sv_path":
            variant_type = "sv"
        if case_obj.get(file_type) is None:
            continue

        vcf_obj = get_vcf(case_obj[file_type])
        try:
            nr_inserted += load_variants(
                adapter=adapter,
                vcf_obj=vcf_obj,
                case_obj=case_obj,
                skip_case_id=skip_case_id,
                gq_treshold=gq_treshold,
                max_window=max_window,
                variant_type=variant_type,
                genome_build=genome_build,
            )
        except Exception as err:
            # If something went wrong do a rollback
            LOG.warning(err)
            delete(
                adapter=adapter,
                case_obj=case_obj,
            )
            raise err
    return nr_inserted
Exemple #6
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def update_database(
    adapter,
    variant_file=None,
    sv_file=None,
    family_file=None,
    family_type="ped",
    skip_case_id=False,
    gq_treshold=None,
    case_id=None,
    max_window=3000,
):
    """Update a case in the database

    Args:
          adapter: Connection to database
          variant_file(str): Path to variant file
          sv_file(str): Path to sv variant file
          family_file(str): Path to family file
          family_type(str): Format of family file
          skip_case_id(bool): If no case information should be added to variants
          gq_treshold(int): If only quality variants should be considered
          case_id(str): If different case id than the one in family file should be used
          max_window(int): Specify the max size for sv windows

    Returns:
          nr_inserted(int)
    """
    vcf_files = []
    nr_variants = None
    vcf_individuals = None
    if variant_file:
        vcf_info = check_vcf(variant_file)
        nr_variants = vcf_info["nr_variants"]
        variant_type = vcf_info["variant_type"]
        vcf_files.append(variant_file)
        # Get the indivuduals that are present in vcf file
        vcf_individuals = vcf_info["individuals"]

    nr_sv_variants = None
    sv_individuals = None
    if sv_file:
        vcf_info = check_vcf(sv_file, "sv")
        nr_sv_variants = vcf_info["nr_variants"]
        vcf_files.append(sv_file)
        sv_individuals = vcf_info["individuals"]

    # If a gq treshold is used the variants needs to have GQ
    for _vcf_file in vcf_files:
        # Get a cyvcf2.VCF object
        vcf = get_vcf(_vcf_file)

        if gq_treshold:
            if not vcf.contains("GQ"):
                LOG.warning(
                    "Set gq-treshold to 0 or add info to vcf {0}".format(
                        _vcf_file))
                raise SyntaxError("GQ is not defined in vcf header")

    # Get a ped_parser.Family object from family file
    family = None
    family_id = None
    if family_file:
        with open(family_file, "r") as family_lines:
            family = get_case(family_lines=family_lines,
                              family_type=family_type)
            family_id = family.family_id

    # There has to be a case_id or a family at this stage.
    case_id = case_id or family_id

    # Convert infromation to a loqusdb Case object
    case_obj = build_case(
        case=family,
        case_id=case_id,
        vcf_path=variant_file,
        vcf_individuals=vcf_individuals,
        nr_variants=nr_variants,
        vcf_sv_path=sv_file,
        sv_individuals=sv_individuals,
        nr_sv_variants=nr_sv_variants,
    )

    existing_case = adapter.case(case_obj)
    if not existing_case:
        raise CaseError("Case {} does not exist in database".format(
            case_obj["case_id"]))

    # Update the existing case in database
    case_obj = load_case(
        adapter=adapter,
        case_obj=case_obj,
        update=True,
    )

    nr_inserted = 0
    # If case was succesfully added we can store the variants
    for file_type in ["vcf_path", "vcf_sv_path"]:
        variant_type = "snv"
        if file_type == "vcf_sv_path":
            variant_type = "sv"
        if case_obj.get(file_type) is None:
            continue

        vcf_obj = get_vcf(case_obj[file_type])
        try:
            nr_inserted += load_variants(
                adapter=adapter,
                vcf_obj=vcf_obj,
                case_obj=case_obj,
                skip_case_id=skip_case_id,
                gq_treshold=gq_treshold,
                max_window=max_window,
                variant_type=variant_type,
            )
        except Exception as err:
            # If something went wrong do a rollback
            LOG.warning(err)
            delete(
                adapter=adapter,
                case_obj=case_obj,
                update=True,
                existing_case=existing_case,
            )
            raise err
    return nr_inserted