コード例 #1
0
ファイル: likelihood.py プロジェクト: arvkevi/phenopy
def predict_likelihood_moldx(phenotypes,
                             phenotype_groups=None,
                             hpo_network=None,
                             alt2prim=None,
                             k_phenotype_groups=1000):
    """
    Predicts the likelihood of molecular diagnosis given a set of phenotypes.
    :param phenotypes: A list of phenotypes or a list of lists of phenotypes.
    :param phenotype_groups: <optionnal> A dictionary of phenotype to phenotype group mappings.
    :param hpo_network: <optional> The hpo networkx object.
    :param alt2prim: <optional> A dictionary of alternate phenotype ids to primary phenotype ids. (must be given if hpo_network is provided)
    :param k_phenotype_groups <optional> An integer that represents the number of phenotype groups to use.
    :return: An array of probabilities for the positive class.
    """
    # detect if phenotypes is 1d or 2d
    if hpo_network is None or alt2prim is None:
        try:
            obo_file = config.get('hpo', 'obo_file')
        except (NoSectionError, NoOptionError):
            logger.critical(
                'No HPO OBO file found in the configuration file. See "hpo:obo_file" parameter.'
            )
            raise
        try:
            disease_to_phenotype_file = config.get(
                'hpo', 'disease_to_phenotype_file')
        except (NoSectionError, NoOptionError):
            logger.critical(
                'No HPO annotated dataset file found in the configuration file.'
                ' See "hpo:disease_to_phenotype_file" parameter.')
            raise
        logger.info(f'Loading HPO OBO file: {obo_file}')
        hpo_network, alt2prim, _ = \
            generate_annotated_hpo_network(obo_file,
                                        disease_to_phenotype_file,
                                        )
    if phenotype_groups is None:
        phenotype_groups = read_phenotype_groups()

    try:
        phenotype_groups[list(phenotype_groups)[0]][f"k{k_phenotype_groups}"]
    except KeyError:
        logger.critical(
            "The value for k_phenotype_groups was not valid. Please use a valid k from the phenotype_groups dictionary."
        )
        raise

    encoded_phenotypes = encode_phenotypes(phenotypes,
                                           phenotype_groups,
                                           hpo_network,
                                           alt2prim,
                                           k=k_phenotype_groups)
    model = joblib.load(config['models']['likelihood.model'])
    probabilities = model.predict_proba(encoded_phenotypes)
    return probabilities[:, 1]
コード例 #2
0
def likelihood_moldx(input_file, output_file=None, k_phenotype_groups=1000):
    """
    :param input_file: The file path to a file containing three columns. [ID\tkey=value\thpodid,hpoid,hpoid]
    :param output_file: The file path to an output file containing the predicted probabilities
    :param k_phenotype_groups: The number of phenotype groups to use for encoding phenotypes. The CLI version of phenopy allows for one of [1000, 1500] 
    """
    try:
        obo_file = config.get('hpo', 'obo_file')
    except (NoSectionError, NoOptionError):
        logger.critical(
            'No HPO OBO file found in the configuration file. See "hpo:obo_file" parameter.'
        )
        sys.exit(1)
    try:
        disease_to_phenotype_file = config.get('hpo',
                                               'disease_to_phenotype_file')
    except (NoSectionError, NoOptionError):
        logger.critical(
            'No HPO annotated dataset file found in the configuration file.'
            ' See "hpo:disease_to_phenotype_file" parameter.')
        sys.exit(1)

    logger.info(f'Loading HPO OBO file: {obo_file}')
    hpo_network, alt2prim, _ = \
        generate_annotated_hpo_network(obo_file,
                                       disease_to_phenotype_file,
                                       )

    # parse input records
    input_records = parse_input(input_file, hpo_network, alt2prim)
    record_ids = [record["record_id"] for record in input_records]
    phenotypes = [record["terms"] for record in input_records]

    # predict likelihood of molecular diagnosis
    positive_probabilities = predict_likelihood_moldx(
        phenotypes,
        phenotype_groups=None,
        hpo_network=hpo_network,
        alt2prim=alt2prim,
        k_phenotype_groups=k_phenotype_groups,
    )

    if output_file is None:
        output_file = "phenopy.likelihood_moldx.txt"
    try:
        with open(output_file, "w") as f:
            for sample_id, probability in zip(record_ids,
                                              positive_probabilities):
                f.write(f"{sample_id}\t{probability}\n")
    except IOError:
        sys.exit("Something went wrong writing the probabilities to file")
コード例 #3
0
def _load_hpo_network(obo_file,
                      terms_to_genes,
                      annotations_count,
                      custom_annotations_file,
                      hpo_network_file=None):
    """
    Load and process phenotypes to genes and obo files if we don't have a processed network already.
    """
    # We instruct the user that they can set hpo_network_file in .phenopy/phenopy.ini
    # The default value is empty string, so check for that first.
    if hpo_network_file is None:
        hpo_network_file = config.get('hpo', 'hpo_network_file')

    if not os.path.exists(hpo_network_file):
        # load and process hpo network
        logger.info(f'Loading HPO OBO file: {obo_file}')
        hpo_network = load_obo(obo_file, logger=logger)
        hpo_network = process(hpo_network,
                              terms_to_genes,
                              annotations_count,
                              custom_annotations_file,
                              logger=logger)

        # save a cache of the processed network
        cache(hpo_network, hpo_network_file)
    # the default hpo_network.pickle file was found
    else:
        try:
            hpo_network = restore(hpo_network_file)
        except (FileNotFoundError, PermissionError, IsADirectoryError) as e:
            logger.critical(
                f'{hpo_network_file} is not a valid path to a pickled hpo_network file.\n'
                f'In your $HOME/.phenopy/phenopy.ini, please set hpo_network_file'
                f'=/path/to/hpo_netowrk.pickle OR leave it empty, which is the default. '
            )
            raise e
    return hpo_network
コード例 #4
0
def score(input_file,
          output_file='-',
          records_file=None,
          annotations_file=None,
          custom_disease_file=None,
          ages_distribution_file=None,
          self=False,
          summarization_method='BMWA',
          scoring_method='HRSS',
          threads=1):
    """
    Scores similarity of provided HPO annotated entries (see format below) against a set of HPO annotated dataset. By
    default scoring happens against diseases annotated by the HPO group. See https://hpo.jax.org/app/download/annotation.

    Phenopy also supports scoring the product of provided entries (see "--product") or scoring against a custom records
    dataset (see "--records-file).

    :param input_file: File with HPO annotated entries, one per line (see format below).
    :param output_file: File path where to store the results. [default: - (stdout)]
    :param records_file: An entity-to-phenotype annotation file in the same format as "input_file". This file, if
     provided, is used to score entries in the "input_file" against entries here. [default: None]
    :param annotations_file: An entity-to-phenotype annotation file in the same format as "input_file". This file, if
     provided, is used to add information content to the network. [default: None]
    :param custom_disease_file: entity Annotation for ranking diseases/genes
    :param ages_distribution_file: Phenotypes age summary stats file containing phenotype HPO id, mean_age, and std.
     [default: None]
    :param self: Score entries in the "input_file" against itself.
    :param summarization_method: The method used to summarize the HRSS matrix. Supported Values are best match average
    (BMA), best match weighted average (BMWA), and maximum (maximum). [default: BMWA]
    :param scoring_method: Either HRSS or Resnik
    :param threads: Number of parallel processes to use. [default: 1]
    """

    try:
        obo_file = config.get('hpo', 'obo_file')
    except (NoSectionError, NoOptionError):
        logger.critical(
            'No HPO OBO file found in the configuration file. See "hpo:obo_file" parameter.'
        )
        sys.exit(1)
    if custom_disease_file is None:
        try:
            disease_to_phenotype_file = config.get(
                'hpo', 'disease_to_phenotype_file')
        except (NoSectionError, NoOptionError):
            logger.critical(
                'No HPO annotated dataset file found in the configuration file.'
                ' See "hpo:disease_to_phenotype_file" parameter.')
            sys.exit(1)
    else:
        logger.info(
            f"using custom disease annotation file: {custom_disease_file}")
        disease_to_phenotype_file = custom_disease_file

    logger.info(f'Loading HPO OBO file: {obo_file}')
    hpo_network, alt2prim, disease_records = \
        generate_annotated_hpo_network(obo_file,
                                       disease_to_phenotype_file,
                                       annotations_file=annotations_file,
                                       ages_distribution_file=ages_distribution_file
                                       )

    # parse input records
    input_records = parse_input(input_file, hpo_network, alt2prim)

    # create instance the scorer class
    try:
        scorer = Scorer(hpo_network,
                        summarization_method=summarization_method,
                        scoring_method=scoring_method)
    except ValueError as e:
        logger.critical(f'Failed to initialize scoring class: {e}')
        sys.exit(1)

    if self:
        score_records = input_records

        scoring_pairs = half_product(len(score_records), len(score_records))
    else:
        if records_file:
            score_records = parse_input(records_file, hpo_network, alt2prim)
        else:
            score_records = disease_records

        scoring_pairs = itertools.product(
            range(len(input_records)),
            range(len(score_records)),
        )

    results = scorer.score_records(input_records, score_records, scoring_pairs,
                                   threads)

    with open_or_stdout(output_file) as output_fh:
        output_fh.write('\t'.join(['#query', 'entity_id', 'score']))
        output_fh.write('\n')
        for result in results:
            output_fh.write('\t'.join(str(column) for column in result))
            output_fh.write('\n')
コード例 #5
0
def annotate(hpo_network, phenotype_to_diseases, num_diseases_annotated, alt2prim, annotations_file=None, ages_distribution_file=None,
            phenotype_disease_frequencies=None):
    """
    Cleans the HPO network.

    Removes non-phenotype branches of the network, and merges all synonyms into one tag.

    :param hpo_network: `networkx.MultiDiGraph` to clean.
    :param phenotype_to_diseases: Dictionary mapping HPO terms to diseases.
    :param num_diseases_annotated: Number of diseases with HPO annotations.
    :param alt2prim: The dict of alternate terms to canonical terms.
    :param annotations_file: A list of custom annotation files, in the same format as tests/data/test.score-long.txt
    :param ages: age distributions object
    :param phenotype_disease_frequencies: dictionary of phenotype to disease frequencies
    :param logger: Python `logging` logger instance.
    :param ages_distribution_file: Path to phenotypes ages distribution file.
    :return: `networkx.MultiDiGraph`
    """

    # Before calculating information content, check for custom_annotations_file and load
    custom_annos = None
    if annotations_file is not None:
        custom_annos = {}
        for record in parse_input(annotations_file, hpo_network, alt2prim):
            for term_id in record['terms']:
                if term_id not in custom_annos:
                    custom_annos[term_id] = []
                custom_annos[term_id].append(record['record_id'])

    # make ages distributions
    ages = None
    if ages_distribution_file is not None:
        try:
            ages = make_age_distributions(ages_distribution_file)
            logger.info(
                f'Adding custom phenotype age distributions to HPO nodes from file: {ages_distribution_file}'
            )
        except (FileNotFoundError, PermissionError) as e:
            logger.critical(e)
            logger.critical(
                f'Specified phenotype ages file could not be loaded or does not exist: {e}'
            )
            exit(1)

    for node_id, data in hpo_network.nodes(data=True):
        # annotate with information content value
        hpo_network.nodes[node_id]['ic'] = calculate_information_content(
            node_id,
            hpo_network,
            phenotype_to_diseases,
            num_diseases_annotated,
            custom_annos,
        )
        # annotate with phenotype age distribution
        hpo_network.nodes[node_id]['disease_weights'] = {}

        if ages is not None and node_id in ages.index:
            hpo_network.nodes[node_id]['age_dist'] = ages.loc[node_id]['age_dist']

        # add the disease_frequency weights as attributes to the node
        if phenotype_disease_frequencies is not None:
            if node_id in phenotype_disease_frequencies:
                for disease_id, frequency in phenotype_disease_frequencies[node_id].items():
                    hpo_network.nodes[node_id]['weights']['disease_frequency'][disease_id] = frequency

        # annotate with depth value
        # hard-coding origin node for now
        origin = 'HP:0000001'
        hpo_network.nodes[node_id]['depth'] = nx.shortest_path_length(
            hpo_network,
            node_id,
            origin
        )

        # clean synonyms
        synonyms = []
        try:
            for synonym in data['synonym']:
                synonyms.append(synonym)
            hpo_network.nodes[node_id]['synonyms'] = re.findall(r'"(.*?)"', ','.join(synonyms))
        except KeyError:
            # pass if no synonym tags in the node
            pass

    return hpo_network
コード例 #6
0
ファイル: experiment.py プロジェクト: arvkevi/phenopy
def run_phenoseries_experiment(outdir=None,
                               phenotypic_series_filepath=None,
                               min_hpos=2,
                               min_entities=4,
                               phenoseries_fraction=1.0,
                               scoring_method="HRSS",
                               threads=1,
                               omim_phenotypes_file=None,
                               pairwise_mim_scores_file=None):

    if outdir is None:
        outdir = os.getcwd

    # load HPO network
    # data directory
    phenopy_data_directory = os.path.join(os.getenv("HOME"), ".phenopy/data")

    # files used in building the annotated HPO network
    obo_file = os.path.join(phenopy_data_directory, "hp.obo")
    disease_to_phenotype_file = os.path.join(phenopy_data_directory,
                                             "phenotype.hpoa")

    hpo_network, alt2prim, _ = generate_annotated_hpo_network(
        obo_file, disease_to_phenotype_file, ages_distribution_file=None)

    # read the phenotypic series file as a DataFrame
    psdf = pd.read_csv(
        phenotypic_series_filepath,
        sep="\t",
        comment="#",
        names=["PS", "MIM", "Phenotype"],
    )
    # null phenotypes are actually null MIM id fields, so just drop these
    psdf = psdf.dropna().sample(frac=phenoseries_fraction, random_state=42)
    psdf.reset_index(inplace=True, drop=True)

    # create a dictionary for phenotypic series to list of omim ids mapping
    ps2mimids = {}
    for ps, mim_ids in psdf.groupby(["PS"])["MIM"]:
        # more than two mims in a ps
        if len(mim_ids) >= 2:
            ps2mimids[ps] = list(set([int(mid) for mid in mim_ids.tolist()]))

    # invert the ps2mimid dictionary for easy lookup of which ps a mim belongs to
    mim2psids = {}
    for mim_id, ps in psdf.groupby(["MIM"])["PS"]:
        mim2psids[int(mim_id)] = ps.tolist()

    fields_to_use = [
        "text",
        "description",
        "otherFeatures",
        "biochemicalFeatures",
        "diagnosis",
        "clinicalFeatures",
    ]

    if omim_phenotypes_file == "":
        logger.info("Scraping OMIM Diseases text")
        mim_texts = {}
        for mim_id in mim2psids:
            mim_response = request_mimid_info(mim_id)
            try:
                mim_info = mim_response.json()
            except AttributeError:
                break
            mim_text = mim_info["omim"]["entryList"][0]["entry"][
                "textSectionList"]

            all_mim_text = ""
            for text_section in mim_text:
                section_name = text_section["textSection"]["textSectionName"]
                if section_name in fields_to_use:
                    # unique_section_names.add(section_name)
                    all_mim_text += " " + text_section["textSection"][
                        "textSectionContent"]

            mim_texts[mim_id] = all_mim_text
        # instantiate txt2hpo's Exctractor class to perform named entity recognition
        extractor = Extractor(remove_negated=True,
                              max_neighbors=3,
                              correct_spelling=False)

        # loop over the MIM ids and extract hpo ids from each MIM's text fields
        mim_hpos = {}
        for mim_id in mim2psids:
            mim_hpos[mim_id] = extractor.hpo(mim_texts[mim_id]).hpids

        mimdf = pd.DataFrame()
        mimdf["omim_id"] = list(mim2psids.keys())
        mimdf["hpo_terms"] = mimdf["omim_id"].apply(
            lambda mim_id: mim_hpos[mim_id])
        mimdf.to_csv(os.path.join(outdir, "omim_phenotypes.txt"),
                     index=False,
                     sep='\t')

    else:
        logger.info("You passed an OMIM disease to phenotype file")
        try:
            mimdf = pd.read_csv(omim_phenotypes_file, sep="\t")
            mimdf["omim_id"] = mimdf["omim_id"].astype(int)
            mimdf["hpo_terms"] = mimdf["hpo_terms"].apply(literal_eval)
            mim_hpos = dict(zip(mimdf["omim_id"], mimdf["hpo_terms"]))
        except FileNotFoundError:
            sys.exit("Please provide a valid file path")

    # do we need this?
    # mim_hpos = {mim_id: hpos for mim_id, hpos in mim_hpos.items()}

    # clean up HPO ids in lists
    for mim_id, hpo_ids in mim_hpos.items():
        mim_hpos[mim_id] = convert_and_filter_hpoids(hpo_ids, hpo_network,
                                                     alt2prim)

    # remove entities (mims) that have less than min_hpos
    mims_to_remove = []
    for mim_id, hpo_ids in mim_hpos.copy().items():
        if len(hpo_ids) <= min_hpos:
            mims_to_remove.append(mim_id)

    # Now remove the entities (mim ids) with less than min_hpos
    experiment_ps2mimids = {}
    # remove these mims from ps
    for ps, mimids in ps2mimids.copy().items():
        experiment_ps2mimids[ps] = []
        for ps_mim_id in mimids:
            if ps_mim_id not in mims_to_remove:
                experiment_ps2mimids[ps].append(ps_mim_id)

    # After removing entities, make sure the series has min number of entities
    # get lists of mims and their PS
    remove_these_ps = []
    for ps, mimids in experiment_ps2mimids.items():
        if len(mimids) < min_entities:
            remove_these_ps.append(ps)

    for psid in remove_these_ps:
        del experiment_ps2mimids[psid]

    # Create a unique list of entity ids, for scoring later
    experiment_omims = set()
    for psid, mim_ids in experiment_ps2mimids.items():
        for mim in mim_ids:
            experiment_omims.add(mim)
    experiment_omims = list(experiment_omims)

    # make a DataFrame for entity ids
    mimdf = pd.DataFrame()
    mimdf["omim_id"] = experiment_omims
    mimdf["hpo_terms"] = mimdf["omim_id"].apply(
        lambda mim_id: mim_hpos[mim_id])

    if pairwise_mim_scores_file == "":
        scorer = Scorer(hpo_network, scoring_method=scoring_method)
        records = [{
            "record_id":
            mim_id,
            "terms":
            convert_and_filter_hpoids(hpo_terms, hpo_network, alt2prim),
            "weights": {},
        } for mim_id, hpo_terms in dict(
            zip(mimdf["omim_id"], mimdf["hpo_terms"])).items()]

        results = scorer.score_records(records,
                                       records,
                                       half_product(len(records),
                                                    len(records)),
                                       threads=threads)

        pairwise_scores = pd.DataFrame(
            results, columns=["mimid1", "mimid2", "phenopy-score"])
        # convert to square form
        pairwise_scores = pairwise_scores.set_index(["mimid1",
                                                     "mimid2"]).unstack()
        # This pandas method chain fills in the missing scores of the square matrix with the values from the transpose of df.
        pairwise_scores = (pairwise_scores["phenopy-score"].reset_index(
            drop=True).fillna(
                pairwise_scores.T.droplevel(0).reset_index(
                    drop=True)).set_index(pairwise_scores.index, drop=True))
        # reindex with the mimdf index
        pairwise_scores = pairwise_scores.reindex(mimdf["omim_id"].tolist())
        pairwise_scores = pairwise_scores[mimdf["omim_id"].tolist()]
        pd.DataFrame(pairwise_scores).to_csv(os.path.join(
            outdir, 'phenoseries.psim_matrix.txt'),
                                             sep='\t')
    else:
        pairwise_scores = pd.read_csv(pairwise_mim_scores_file, sep='\t')

    ranksdf = make_rank_dataframe(
        pairwise_scores.astype(float).values, mimdf, experiment_ps2mimids)
    ranksdf.to_csv(os.path.join(outdir, "phenoseries.rankdf.txt"), sep="\t")
コード例 #7
0
def score(query_hpo_file, records_file=None, query_name='SAMPLE', obo_file=None, pheno2genes_file=None, threads=1,
          agg_score='BMA', no_parents=False, custom_annotations_file=None, output_file=None):
    """
    Scores a case HPO terms against all genes associated HPO.

    :param query_hpo_file: File with case HPO terms, one per line.
    :param records_file: One record per line, tab delimited. First column record unique identifier, second column
        pipe separated list of HPO identifier (HP:0000001).
    :param query_name: Unique identifier for the query file.
    :param obo_file: OBO file from https://hpo.jax.org/app/download/ontology.
    :param pheno2genes_file: Phenotypes to genes from https://hpo.jax.org/app/download/annotation.
    :param threads: Number of parallel process to use.
    :param agg_score: The aggregation method to use for summarizing the similarity matrix between two term sets
        Must be one of {'BMA', 'maximum'}
    :param no_parents: If provided, scoring is done by only using the most informative nodes. All parent nodes are removed.
    :param custom_annotations_file: A custom entity-to-phenotype annotation file in the same format as tests/data/test.score-product.txt
    :param output_file: filepath where to store the results.
    """

    if agg_score not in {'BMA', 'maximum', }:
        logger.critical(
            'agg_score must be one of {BMA, maximum}.')
        exit(1)

    if obo_file is None:
        try:
            obo_file = config.get('hpo', 'obo_file')
        except (NoSectionError, NoOptionError):
            logger.critical(
                'No HPO OBO file provided and no "hpo:obo_file" found in the configuration file.')
            exit(1)

    if pheno2genes_file is None:
        try:
            pheno2genes_file = config.get('hpo', 'pheno2genes_file')
        except (NoSectionError, NoOptionError):
            logger.critical(
                'No HPO pheno2genes_file file provided and no "hpo:pheno2genes_file" found in the configuration file.'
            )
            exit(1)

    try:
        with open(query_hpo_file, 'r') as case_fh:
            case_hpo = case_fh.read().splitlines()
    except (FileNotFoundError, PermissionError) as e:
        logger.critical(e)
        exit(1)

    # load phenotypes to genes associations
    terms_to_genes, genes_to_terms, annotations_count = load_p2g(
        pheno2genes_file, logger=logger)

    # load hpo network
    hpo_network = _load_hpo_network(
        obo_file, terms_to_genes, annotations_count, custom_annotations_file)

    # create instance the scorer class
    scorer = Scorer(hpo_network)

    # multiprocessing objects
    manager = Manager()
    lock = manager.Lock()

    if no_parents is True:
        case_hpo = remove_parents(case_hpo, hpo_network)

    if records_file:
        # score and output case hpo terms against all genes associated set of hpo terms
        logger.info(
            f'Scoring HPO terms from file: {query_hpo_file} against entities in: {records_file}')

        records = read_records_file(records_file, no_parents, hpo_network, logger=logger)

        # include the case-to-iteslf
        records[query_name] = case_hpo
        if not output_file:
            sys.stdout.write('\t'.join(['#query', 'entity_id', 'score']))
            sys.stdout.write('\n')
            with Pool(threads) as p:
                p.starmap(scorer.score_pairs, [(records, [
                          (query_name, record) for record in records], lock, agg_score, i, threads) for i in range(threads)])
        else:
            with Pool(threads) as p:
                scored_results = p.starmap(scorer.score_pairs, [(records, [(query_name, record) for record in records],
                                                                 lock, agg_score, i, threads, False) for i in range(threads)])
            scored_results = [item for sublist in scored_results for item in sublist]
            scored_results_df = pd.DataFrame(data=scored_results, columns='#query,entity_id,score'.split(','))
            scored_results_df = scored_results_df.sort_values(by='score', ascending=False)
            scored_results_df.to_csv(output_file, sep='\t', index=False)
            logger.info(f'Scoring completed')
            logger.info(f'Writing results to file: {output_file}')

    else:
        # score and output case hpo terms against all genes associated set of hpo terms
        logger.info(f'Scoring case HPO terms from file: {query_hpo_file}')

        # add the case terms to the genes_to_terms dict
        genes_to_terms[query_name] = case_hpo
        if not output_file:
            sys.stdout.write('\t'.join(['#query', 'gene', 'score']))
            sys.stdout.write('\n')
            # iterate over each cross-product and score the pair of records
            with Pool(threads) as p:
                p.starmap(scorer.score_pairs, [(genes_to_terms, [
                          (query_name, gene) for gene in genes_to_terms], lock, agg_score, i, threads) for i in range(threads)])
        else:

            with Pool(threads) as p:
                scored_results = p.starmap(scorer.score_pairs, [(genes_to_terms,
                                     [(query_name, gene) for gene in genes_to_terms], lock, agg_score, i, threads, False)
                                                                for i in range(threads)])
            scored_results = [item for sublist in scored_results for item in sublist]
            scored_results_df = pd.DataFrame(data=scored_results, columns='#query,gene,score'.split(','))
            scored_results_df = scored_results_df.sort_values(by='score', ascending=False)
            scored_results_df.to_csv(output_file, sep='\t', index=False)
            logger.info(f'Scoring completed')
            logger.info(f'Writing results to file: {output_file}')
コード例 #8
0
def score_product(records_file, obo_file=None, pheno2genes_file=None, threads=1, agg_score='BMA', no_parents=False,
                  custom_annotations_file=None):
    """
    Scores the cartesian product of HPO terms from a list of unique records (cases, genes, diseases, etc).

    :param records_file: One record per line, tab delimited. First column record unique identifier, second column
        pipe separated list of HPO identifier (HP:0000001).
    :param obo_file: OBO file from https://hpo.jax.org/app/download/ontology.
    :param pheno2genes_file: Phenotypes to genes from https://hpo.jax.org/app/download/annotation.
    :param threads: Multiprocessing threads to use [default: 1].
    :param agg_score: The aggregation method to use for summarizing the similarity matrix between two term sets
        Must be one of {'BMA', 'maximum'}
    :param no_parents: If provided, scoring is done by only using the most informative nodes. All parent nodes are removed.
    :param custom_annotations_file: A custom entity-to-phenotype annotation file in the same format as tests/data/test.score-product.txt
    """
    if agg_score not in {'BMA', 'maximum', }:
        logger.critical(
            'agg_score must be one of {BMA, maximum}.')
        exit(1)

    if obo_file is None:
        try:
            obo_file = config.get('hpo', 'obo_file')
        except (NoSectionError, NoOptionError):
            logger.critical(
                'No HPO OBO file provided and no "hpo:obo_file" found in the configuration file.')
            exit(1)

    if pheno2genes_file is None:
        try:
            pheno2genes_file = config.get('hpo', 'pheno2genes_file')
        except (NoSectionError, NoOptionError):
            logger.critical(
                'No HPO pheno2genes_file file provided and no "hpo:pheno2genes_file" found in the configuration file.'
            )
            exit(1)

    # load phenotypes to genes associations
    terms_to_genes, _, annotations_count = load_p2g(
        pheno2genes_file, logger=logger)

    # load hpo network
    hpo_network = _load_hpo_network(
        obo_file, terms_to_genes, annotations_count, custom_annotations_file)

    # try except
    records = read_records_file(records_file, no_parents, hpo_network, logger=logger)

    logger.info(f'Scoring product of records from file: {records_file}')

    # create instance the scorer class
    scorer = Scorer(hpo_network)

    # create records product generator
    records_product = itertools.product(records.keys(), repeat=2)

    # iterate over each cross-product and score the pair of records
    manager = Manager()
    lock = manager.Lock()
    with Pool(threads) as p:
        p.starmap(scorer.score_pairs, [(records, records_product,
                                        lock, agg_score, i, threads) for i in range(threads)])