diff --git a/notebooks/LIRICAL/LIRICAL.ipynb b/notebooks/LIRICAL/LIRICAL.ipynb new file mode 100644 index 000000000..99b902677 --- /dev/null +++ b/notebooks/LIRICAL/LIRICAL.ipynb @@ -0,0 +1,542 @@ +{ + "cells": [ + { + "cell_type": "markdown", + "id": "3f88f70c-970a-43d2-b03c-1b0676ad22bc", + "metadata": {}, + "source": [ + "

Convert LIRICAL's 384 Phenopackets to GA4GH Version 2 Format

\n", + "

Robinson PN, et al. (2020) Interpretable Clinical Genomics with a Likelihood Ratio Paradigm. Am J Hum Genet. 2020 Sep 3;107(3):403-417 presented 384 phenopackets formated according to the GA4GH Phenopacket Schema version 1. This notebook converts those phenopackets to version 2 of the Phenopacket Schema.

\n", + "

We use the Python json package to input the V1 phenopackets and apply a series of corrections to ensure the V2 phenopackets are correctly formated.

" + ] + }, + { + "cell_type": "code", + "execution_count": 1, + "id": "33a1010e-60e4-4a96-b153-7a8cc9d9a5ff", + "metadata": {}, + "outputs": [], + "source": [ + "import phenopackets as PPKt\n", + "import json\n", + "import os\n", + "import re\n", + "from google import protobuf\n", + "from google.protobuf.json_format import MessageToJson\n", + "import time\n", + "import hpotk" + ] + }, + { + "cell_type": "markdown", + "id": "ff3ce5a5-0677-4c32-82cd-9df4b5312987", + "metadata": {}, + "source": [ + "

Import HPO object

" + ] + }, + { + "cell_type": "code", + "execution_count": 2, + "id": "a154a8eb-6f41-44d6-9e37-060dfa464169", + "metadata": {}, + "outputs": [], + "source": [ + "hpo = hpotk.load_ontology('http://purl.obolibrary.org/obo/hp.json')" + ] + }, + { + "cell_type": "markdown", + "id": "32ff6443-3ae0-4603-9f62-7f8c956a92b5", + "metadata": {}, + "source": [ + "### Get all 384 json files" + ] + }, + { + "cell_type": "code", + "execution_count": 5, + "id": "fa8afc86-540a-4a59-8328-6bcb4746336b", + "metadata": {}, + "outputs": [ + { + "name": "stdout", + "output_type": "stream", + "text": [ + "Extracted total of 384 V1 Phenopacket V1 files\n" + ] + } + ], + "source": [ + "from os import listdir\n", + "from os.path import isfile, join\n", + "v1dir = \"v1phenopackets\"\n", + "jsonfiles = [f for f in listdir(v1dir) if isfile(join(v1dir, f)) and f.endswith(\"json\")]\n", + "print(f\"Extracted total of {len(jsonfiles)} V1 Phenopacket V1 files\")" + ] + }, + { + "cell_type": "markdown", + "id": "19f2659b-9ac5-4e5e-a683-3194bc56a82a", + "metadata": {}, + "source": [ + "### Create JSON objects from JSON files" + ] + }, + { + "cell_type": "code", + "execution_count": 6, + "id": "8d42f9eb-f80e-4c51-b6dc-dc22d07ad8b8", + "metadata": {}, + "outputs": [], + "source": [ + "def get_json_object(fname, dirname):\n", + " fpath = join(dirname, fname)\n", + " if not isfile(fpath):\n", + " raise FileNotFoundError(f\"Could not find {fpath}\")\n", + " with open(fpath, \"r\") as f:\n", + " json_string = f.read()\n", + " json_dict = json.loads(json_string)\n", + " return json_dict" + ] + }, + { + "cell_type": "code", + "execution_count": 7, + "id": "b2d1c6d3-cdf1-469a-a4d0-c5bf416b95f0", + "metadata": {}, + "outputs": [], + "source": [ + "def get_id(json_dict):\n", + " if 'id' not in json_dict:\n", + " raise ValueError(\"Could not extract id field\")\n", + " else:\n", + " return json_dict.get('id')" + ] + }, + { + "cell_type": "code", + "execution_count": 8, + "id": "3417ffd0-1859-4a35-bd2f-99d2a6d24517", + "metadata": {}, + "outputs": [], + "source": [ + "def validate_age(ageString):\n", + " \"\"\"\n", + " return true if we can parse age as an ISO 8601 Period\n", + " \"\"\"\n", + " if ageString == \"N/A\":\n", + " return False\n", + " # first check if the string contains digits\n", + " _digits = re.compile('\\d')\n", + " if not bool(_digits.search(ageString)):\n", + " print(f\"invalid ageString {ageString}\")\n", + " return False\n", + " # now check that the string conforms to ISO 8601, e.g. P34Y2M\n", + " match = re.match(\n", + " r'P((?P\\d+)Y)?((?P\\d+)M)?((?P\\d+)W)?((?P\\d+)D)?(T((?P\\d+)H)?((?P\\d+)M)?((?P\\d+)S)?)?',\n", + " ageString\n", + " )\n", + " return match" + ] + }, + { + "cell_type": "code", + "execution_count": 9, + "id": "a2a68ac7-335d-4154-a16e-5c5376e3f3a7", + "metadata": {}, + "outputs": [], + "source": [ + "def get_subject(json_dict):\n", + " if 'subject' not in json_dict:\n", + " raise ValueError(\"Could not extract id field\")\n", + " subject = json_dict.get('subject')\n", + " proband_id = subject.get('id', None)\n", + " ageAtCollection = subject.get('ageAtCollection', None)\n", + " invalid_age_strings = { \"N/A\", \"ADULT\", \"FETUS\" }\n", + " if ageAtCollection is not None:\n", + " iso_age = ageAtCollection.get('age', None)\n", + " iso_age = iso_age.upper()\n", + " if not iso_age in invalid_age_strings:\n", + " if not iso_age.startswith(\"P\"): \n", + " iso_age = \"P\" + iso_age\n", + " if not validate_age(iso_age):\n", + " print(f\"Could not validate age for {proband_id}: \\\"{iso_age}\\\", will omit\")\n", + " iso_age = None\n", + " else:\n", + " iso_age = None\n", + " \n", + " sex = subject.get('sex', 'UNKNOWN_SEX')\n", + " return proband_id, iso_age, sex\n", + " " + ] + }, + { + "cell_type": "code", + "execution_count": 10, + "id": "c83698bb-a15f-4a6c-81eb-cf10c93bde09", + "metadata": {}, + "outputs": [], + "source": [ + "def get_phenotypic_features_list(json_dict):\n", + " if 'phenotypicFeatures' not in json_dict:\n", + " raise ValueError(\"Could not extract phenotypicFeatures field\")\n", + " pfeature_list = []\n", + " for pfeat in json_dict.get('phenotypicFeatures'):\n", + " pfeature = PPKt.PhenotypicFeature()\n", + " ontology_term = pfeat.get('type')\n", + " ontology_id = ontology_term.get('id')\n", + " ontology_label = ontology_term.get('label')\n", + " # The following code uses the HPO to update outdated term IDs and labels\n", + " if ontology_id in hpo:\n", + " hpo_term = hpo.get_term(ontology_id)\n", + " ontology_id = hpo_term.identifier\n", + " ontology_label = hpo_term.name\n", + " hpo_term = PPKt.OntologyClass()\n", + " hpo_term.id = ontology_id.value\n", + " hpo_term.label = ontology_label\n", + " pfeature.type.CopyFrom(hpo_term)\n", + " if 'excluded' in pfeat:\n", + " pfeature.excluded = pfeat.excluded\n", + " evidence_list = pfeat.get('evidence')\n", + " # The 384 v1 phenopackets always have exactly one evidence element\n", + " # do not check here, things will crash if we were wrong\n", + " evidence = evidence_list[0]\n", + " evidence_code = evidence.get('evidenceCode')\n", + " evidence_term = PPKt.OntologyClass()\n", + " evidence_term.id = evidence_code.get('id')\n", + " evidence_term.label = evidence_code.get('label')\n", + " evi = PPKt.Evidence()\n", + " evi.evidence_code.CopyFrom(evidence_term)\n", + " reference_json = evidence.get('reference')\n", + " if reference_json is not None:\n", + " ref = PPKt.ExternalReference()\n", + " ref.id = reference_json.get('id')\n", + " ref.description = reference_json.get('description')\n", + " evi.reference.CopyFrom(ref)\n", + " pfeature.evidence.append(evi)\n", + " pfeature_list.append(pfeature)\n", + " return pfeature_list" + ] + }, + { + "cell_type": "markdown", + "id": "9f2ecee5-e97a-4e6a-ae0e-7a360b6b36ae", + "metadata": {}, + "source": [ + "

Disease

\n", + "

This is the format of the disease entries in the V1 schema.

\n", + "
'diseases': [{'term': {'id': 'OMIM:191900', 'label': 'MUCKLE-WELLS SYNDROME; MWS'}}]
" + ] + }, + { + "cell_type": "code", + "execution_count": 11, + "id": "717b8899-3fa3-4712-b8ae-cbedbc6f183e", + "metadata": {}, + "outputs": [], + "source": [ + "def get_disease(json_dict):\n", + " if not 'diseases' in json_dict:\n", + " raise ValueError(\"Could not extract disease field\")\n", + " disease_list = json_dict.get('diseases')\n", + " if len(disease_list) != 1:\n", + " raise ValueError(f\"Got bad number of diseases, {len(disease_list)}\")\n", + " disease_object = disease_list[0]\n", + " return disease_object.get('term')" + ] + }, + { + "cell_type": "code", + "execution_count": 12, + "id": "06ab9fdb-2ee1-4d68-87e8-d78a09295f3b", + "metadata": {}, + "outputs": [], + "source": [ + "def get_gene(json_dict):\n", + " \"\"\"\n", + " We expect one and only one gene here\n", + " \"\"\"\n", + " if not 'genes' in json_dict:\n", + " raise ValueError(\"Could not extract genes field\")\n", + " gene_list = json_dict.get('genes')\n", + " if len(gene_list) != 1:\n", + " raise ValueError(f\"Got bad number of genes, {len(gene_list)}\")\n", + " return gene_list[0]" + ] + }, + { + "cell_type": "markdown", + "id": "64f2a698-1931-414d-abcd-c0d5ec64b2a8", + "metadata": {}, + "source": [ + "

Variants in v1 phenopacket

\n", + "

This is the format of the variants entries in the V1 schema.

\n", + "\n", + "
\n",
+    " 'variants': [{'vcfAllele': {'genomeAssembly': 'GRCh37', 'chr': '1', 'pos': 247587794, 'ref': 'C', 'alt': 'T'}, \n",
+    "    'zygosity': {'id': 'GENO:0000135', 'label': 'heterozygous'}}]\n",
+    " 
" + ] + }, + { + "cell_type": "code", + "execution_count": 13, + "id": "c488dc42-0868-49e0-8f4d-286c1c8dead3", + "metadata": {}, + "outputs": [], + "source": [ + "def get_one_ga4gh_interpretation(vcf_allele, zygosity, gene, disease, var_id):\n", + " vdescriptor = PPKt.VariationDescriptor()\n", + " vdescriptor.id = var_id\n", + " vdescriptor.gene_context.value_id = gene.get('id')\n", + " vdescriptor.gene_context.symbol = gene.get('symbol')\n", + " vdescriptor.molecule_context = PPKt.MoleculeContext.genomic\n", + " vdescriptor.allelic_state.id = zygosity.get('id')\n", + " vdescriptor.allelic_state.label = zygosity.get('label')\n", + " vinterpretation = PPKt.VariantInterpretation() \n", + " vcf_record = PPKt.VcfRecord()\n", + " vcf_record.genome_assembly = vcf_allele.get('genomeAssembly')\n", + " vcf_record.chrom = vcf_allele.get('chr')\n", + " vcf_record.pos = vcf_allele.get('pos')\n", + " vcf_record.ref = vcf_allele.get('ref')\n", + " vcf_record.alt = vcf_allele.get('alt')\n", + " vdescriptor.vcf_record.CopyFrom(vcf_record)\n", + " vinterpretation.variation_descriptor.CopyFrom(vdescriptor)\n", + " return vinterpretation" + ] + }, + { + "cell_type": "code", + "execution_count": 14, + "id": "f89c45dc-5e3d-421e-9633-3963754b21df", + "metadata": {}, + "outputs": [], + "source": [ + "def get_interpretation(json_dict, gene, disease, individual_id):\n", + " if not 'variants' in json_dict:\n", + " raise ValueError(\"Could not find variants\")\n", + " ga4gh_var_list = []\n", + " i = 0\n", + " for v in json_dict.get('variants'):\n", + " if 'vcfAllele' not in v:\n", + " raise ValueError(\"Malformed variant\")\n", + " if 'zygosity' not in v:\n", + " raise ValueError(\"Malformed variant - no zygosity\")\n", + " vcf_allele = v.get('vcfAllele')\n", + " zygosity = v.get('zygosity')\n", + " i += 1\n", + " var_id = f\"variant-{i}\"\n", + " ga4gh_int = get_one_ga4gh_interpretation(vcf_allele, zygosity, gene, disease, var_id)\n", + " ga4gh_var_list.append(ga4gh_int)\n", + " interpretation = PPKt.Interpretation()\n", + " interpretation.id = \"interpretation-id\"\n", + " interpretation.progress_status = PPKt.Interpretation.ProgressStatus.SOLVED\n", + " interpretation.diagnosis.disease.id = disease.get('id')\n", + " interpretation.diagnosis.disease.label = disease.get('label')\n", + " for var in ga4gh_var_list:\n", + " genomic_interpretation = PPKt.GenomicInterpretation()\n", + " genomic_interpretation.subject_or_biosample_id = individual_id\n", + " # by assumption, variants passed to this package are all causative\n", + " genomic_interpretation.interpretation_status = PPKt.GenomicInterpretation.InterpretationStatus.CAUSATIVE\n", + " genomic_interpretation.variant_interpretation.CopyFrom(var)\n", + " interpretation.diagnosis.genomic_interpretations.append(genomic_interpretation)\n", + " return interpretation " + ] + }, + { + "cell_type": "markdown", + "id": "b3146193-6f7a-490a-896d-be6ac5a37aaa", + "metadata": {}, + "source": [ + "

Metadata (V1)

" + ] + }, + { + "cell_type": "code", + "execution_count": 15, + "id": "abd90fb5-ca2e-439c-a338-a4bb25b1dcdc", + "metadata": {}, + "outputs": [], + "source": [ + "def get_metadata(json_dict):\n", + " if not 'metaData' in json_dict:\n", + " raise ValueError(\"Could not find metaData\")\n", + " metadata = json_dict.get('metaData')\n", + " createdBy = metadata.get('createdBy', 'n/a')\n", + " submittedBy = metadata.get('submittedBy')\n", + " ga4gh_metadata = PPKt.MetaData()\n", + " resources = []\n", + " for res in metadata.get('resources'):\n", + " if res.get('id') == 'ncbitaxon':\n", + " continue # superfluous to add taxon H. sapiens in thius context and we do not have iriPREFIX for this resource\n", + " ga4gh_resource = PPKt.Resource()\n", + " ga4gh_resource.id = res.get('id')\n", + " ga4gh_resource.name = res.get('name')\n", + " ga4gh_resource.url = res.get('url')\n", + " ga4gh_resource.version = res.get('version', 'n/a')\n", + " ga4gh_resource.namespace_prefix = res.get('namespacePrefix')\n", + " ga4gh_resource.iri_prefix = res.get('iriPrefix', 'n/a')\n", + " ga4gh_metadata.resources.append(ga4gh_resource)\n", + " ga4gh_metadata.created_by = createdBy\n", + " if submittedBy is not None:\n", + " ga4gh_metadata.submitted_by = submittedBy\n", + " now = time.time()\n", + " seconds = int(now)\n", + " nanos = int((now - seconds) * 10 ** 9)\n", + " timestamp = protobuf.timestamp_pb2.Timestamp(seconds=seconds, nanos=nanos)\n", + " ga4gh_metadata.created.CopyFrom(timestamp)\n", + " ga4gh_metadata.phenopacket_schema_version = \"2.0\"\n", + " for res in resources:\n", + " metadata.resources.append(res)\n", + " return ga4gh_metadata" + ] + }, + { + "cell_type": "code", + "execution_count": 16, + "id": "62022748-1fc4-47b2-b298-9d4443943510", + "metadata": {}, + "outputs": [], + "source": [ + "def construct_v2_phenopacket(json_dict):\n", + " id = get_id(json_dict)\n", + " proband_id, iso_age, sex= get_subject(json_dict)\n", + " pfeatures_list = get_phenotypic_features_list(json_dict)\n", + " gene = get_gene(json_dict)\n", + " disease = get_disease(json_dict)\n", + " interpretation = get_interpretation(json_dict, gene, disease, proband_id)\n", + " # Create phenopacket\n", + " phenopacket = PPKt.Phenopacket()\n", + " phenopacket.id = id\n", + " proband = PPKt.Individual()\n", + " proband.id = proband_id\n", + " if sex == \"MALE\":\n", + " proband.sex = PPKt.Sex.MALE\n", + " elif sex == \"FEMALE\":\n", + " proband.sex = PPKt.Sex.FEMALE\n", + " else:\n", + " proband.sex = PPKt.Sex.UNKNOWN_SEX\n", + " if iso_age is not None:\n", + " proband.time_at_last_encounter.age.iso8601duration = iso_age\n", + " phenopacket.subject.CopyFrom(proband)\n", + " for pf in pfeatures_list:\n", + " phenopacket.phenotypic_features.append(pf)\n", + " phenopacket.interpretations.append(interpretation)\n", + " metadata = get_metadata(json_dict)\n", + " phenopacket.meta_data.CopyFrom(metadata)\n", + " return phenopacket\n", + " " + ] + }, + { + "cell_type": "code", + "execution_count": 17, + "id": "be420e84-8e20-4ebf-b703-ab4b257e6cc5", + "metadata": {}, + "outputs": [], + "source": [ + "def output_phenopacket(json_dict, output_dir):\n", + " ppack = construct_v2_phenopacket(json_dict)\n", + " json_string = MessageToJson(ppack)\n", + " pp_id = ppack.id\n", + " fname = pp_id.replace(\" \", \"\").replace(\":\", \"_\")\n", + " fname = re.sub('[^A-Za-z0-9_-]', '', fname) # remove any illegal characters from filename\n", + " fname = fname.replace(\" \", \"_\") + \".json\"\n", + " outpth = os.path.join(output_dir, fname)\n", + " with open(outpth, \"wt\") as fh:\n", + " fh.write(json_string)" + ] + }, + { + "cell_type": "markdown", + "id": "a1124962-d861-43be-be8a-8521fa2b3868", + "metadata": {}, + "source": [ + "

Output

\n", + "

Here we output the 384 phenopackets in version 2 format. Some of the original files do not have a valid age string, and so they produce a warning during the output. This can be ignored, the corresponding cases our output without an age (which is not required)." + ] + }, + { + "cell_type": "code", + "execution_count": 18, + "id": "cdf192e7-66fe-4f70-bfdd-82688994bd7b", + "metadata": {}, + "outputs": [ + { + "name": "stdout", + "output_type": "stream", + "text": [ + "................................................................................................................................................................................................................................................................................................................................................................................................\n", + "Output 384 phenopackets\n" + ] + } + ], + "source": [ + "out_dir = \"v2phenopackets\"\n", + "v1dir = \"v1phenopackets\"\n", + "os.makedirs(out_dir, exist_ok=True)\n", + "n = 0\n", + "for json_file in jsonfiles:\n", + " json_dict = get_json_object(json_file, v1dir)\n", + " output_phenopacket(json_dict, out_dir)\n", + " print(\".\", end=\"\")\n", + " n += 1\n", + "print(f\"\\nOutput {n} phenopackets\")" + ] + }, + { + "cell_type": "markdown", + "id": "6c535af8-e15e-4f84-890f-79df3df0cead", + "metadata": {}, + "source": [ + "

Where to go from here

\n", + "

Use phenopacket tools to check the output V2 phenopackets.

\n", + "

I checked the phenopackets with pxf validate *.json and everything was OK (no errors reported).

" + ] + }, + { + "cell_type": "markdown", + "id": "a5ce98dd-d164-4b21-9b09-fbfa0f061ea7", + "metadata": {}, + "source": [ + "
\n",
+    "pxf validate --hpo /Users/robinp/data/hpo/hp.json *.json | cut -f3 -d,  errors.csv | sort | uniq\n",
+    "HpoAncestryValidator\n",
+    "HpoUniqueValidator\n",
+    "more than once but the feature was present 2 times\"\n",
+    "
\n", + "

This means that the phenopackets may have redundant entries,but the term ids are up to date.

" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "id": "3af17457-c57e-4af2-a819-3a9b06043a06", + "metadata": {}, + "outputs": [], + "source": [] + } + ], + "metadata": { + "kernelspec": { + "display_name": "Python 3 (ipykernel)", + "language": "python", + "name": "python3" + }, + "language_info": { + "codemirror_mode": { + "name": "ipython", + "version": 3 + }, + "file_extension": ".py", + "mimetype": "text/x-python", + "name": "python", + "nbconvert_exporter": "python", + "pygments_lexer": "ipython3", + "version": "3.10.12" + } + }, + "nbformat": 4, + "nbformat_minor": 5 +} diff --git a/notebooks/LIRICAL/v1phenopackets/Abdul_Wahab-2016-GCDH-Patient_5.json b/notebooks/LIRICAL/v1phenopackets/Abdul_Wahab-2016-GCDH-Patient_5.json new file mode 100644 index 000000000..1d386fcf1 --- /dev/null +++ b/notebooks/LIRICAL/v1phenopackets/Abdul_Wahab-2016-GCDH-Patient_5.json @@ -0,0 +1,162 @@ +{ + "id": "PMID:27672653-Abdul_Wahab-2016-GCDH-Patient_5", + "subject": { + "id": "Patient 5", + "ageAtCollection": { + "age": "P14Y" + }, + "sex": "FEMALE", + "taxonomy": { + "id": "NCBITaxon:9606", + "label": "Homo sapiens" + } + }, + "phenotypicFeatures": [{ + "type": { + "id": "HP:0000256", + "label": "Macrocephaly" + }, + "evidence": [{ + "evidenceCode": { + "id": "ECO:0000033", + "label": "author statement supported by traceable reference" + }, + "reference": { + "id": "PMID:27672653", + "description": "Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1" + } + }] + }, { + "type": { + "id": "HP:0002059", + "label": "Cerebral atrophy" + }, + "evidence": [{ + "evidenceCode": { + "id": "ECO:0000033", + "label": "author statement supported by traceable reference" + }, + "reference": { + "id": "PMID:27672653", + "description": "Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1" + } + }] + }, { + "type": { + "id": "HP:0100309", + "label": "Subdural hemorrhage" + }, + "evidence": [{ + "evidenceCode": { + "id": "ECO:0000033", + "label": "author statement supported by traceable reference" + }, + "reference": { + "id": "PMID:27672653", + "description": "Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1" + } + }] + }, { + "type": { + "id": "HP:0003150", + "label": "Glutaric aciduria" + }, + "evidence": [{ + "evidenceCode": { + "id": "ECO:0000033", + "label": "author statement supported by traceable reference" + }, + "reference": { + "id": "PMID:27672653", + "description": "Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1" + } + }] + }, { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + }, + "evidence": [{ + "evidenceCode": { + "id": "ECO:0000033", + "label": "author statement supported by traceable reference" + }, + "reference": { + "id": "PMID:27672653", + "description": "Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1" + } + }] + }], + "genes": [{ + "id": "NCBIGene:2639", + "symbol": "GCDH" + }], + "variants": [{ + "vcfAllele": { + "genomeAssembly": "GRCh37", + "chr": "19", + "pos": 13007113, + "ref": "G", + "alt": "A" + }, + "zygosity": { + "id": "GENO:0000136", + "label": "homozygous" + } + }], + "diseases": [{ + "term": { + "id": "OMIM:231670", + "label": "GLUTARIC ACIDEMIA I" + } + }], + "metaData": { + "createdBy": "Hpo Case Annotator : 1.0.13-SNAPSHOT", + "submittedBy": "HPO:probinson", + "resources": [{ + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "2018-03-08", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, { + "id": "pato", + "name": "Phenotype And Trait Ontology", + "url": "http://purl.obolibrary.org/obo/pato.owl", + "version": "2018-03-28", + "namespacePrefix": "PATO", + "iriPrefix": "http://purl.obolibrary.org/obo/PATO_" + }, { + "id": "geno", + 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"http://purl.obolibrary.org/obo/PATO_" + }, { + "id": "geno", + "name": "Genotype Ontology", + "url": "http://purl.obolibrary.org/obo/geno.owl", + "version": "19-03-2018", + "namespacePrefix": "GENO", + "iriPrefix": "http://purl.obolibrary.org/obo/GENO_" + }, { + "id": "ncbitaxon", + "name": "NCBI organismal classification", + "url": "http://purl.obolibrary.org/obo/ncbitaxon.owl", + "version": "2018-03-02", + "namespacePrefix": "NCBITaxon" + }, { + "id": "eco", + "name": "Evidence and Conclusion Ontology", + "url": "http://purl.obolibrary.org/obo/eco.owl", + "version": "2018-11-10", + "namespacePrefix": "ECO", + "iriPrefix": "http://purl.obolibrary.org/obo/ECO_" + }, { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "namespacePrefix": "OMIM" + }], + "phenopacketSchemaVersion": "1.0.0-RC3", + "externalReferences": [{ + "id": "PMID:30655368", + "description": "Molecular mechanisms of bleeding disorder-associated GFI1BQ287* mutation and its affected pathways in megakaryocytes and platelets" + }] + } +} \ No newline at end of file diff --git a/notebooks/PRIORIT/input/Supplementary1_PRIORIT.xlsx b/notebooks/PRIORIT/input/Supplementary1_PRIORIT.xlsx index 6b69fddf0..1a29926f9 100644 Binary files a/notebooks/PRIORIT/input/Supplementary1_PRIORIT.xlsx and b/notebooks/PRIORIT/input/Supplementary1_PRIORIT.xlsx differ diff --git a/notebooks/PRIORIT/priori-t.ipynb b/notebooks/PRIORIT/priori-t.ipynb index 15b8031aa..9013f6c81 100644 --- a/notebooks/PRIORIT/priori-t.ipynb +++ b/notebooks/PRIORIT/priori-t.ipynb @@ -26,6 +26,23 @@ "- Lee H, et al. (2014) Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA 312:1880-7. PMID:25326637" ] }, + { + "cell_type": "markdown", + "id": "c1c7804b-7ad7-40c7-ad94-029a34b46611", + "metadata": {}, + "source": [ + "## Probands\n", + "Some probands were excluded because it was npot possible to determine the specific (genetic) diagnosis from the available input data or because the diagnosis was not unambiguous. Cases with mixed diagnoses were excluded because cosegregation data was not presented that would allow an unambiguous diagnosis\n", + "- TCS021 (mixed phenotype)\n", + "- TCS022 (unclear disease-level diagnosis)\n", + "- TCS024 (mixed phenotype)\n", + "- TCS025 (mixed phenotype)\n", + "- TCS041 (Systemic capillary leak syndrome and TLN1 association not confirmed)\n", + "- TCS051\n", + "- TCS053\n", + "- TCS056" + ] + }, { "cell_type": "code", "execution_count": 8, @@ -427,9 +444,9 @@ ], "metadata": { "kernelspec": { - "display_name": "pstore_env", + "display_name": "ps_venv", "language": "python", - "name": "pstore_env" + "name": "ps_venv" }, "language_info": { "codemirror_mode": { @@ -441,7 +458,7 @@ "name": "python", "nbconvert_exporter": "python", "pygments_lexer": "ipython3", - "version": "3.11.3" + "version": "3.10.12" } }, "nbformat": 4,