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BFF-PXF-SIMULATOR

We have developed a tool for generating simulated (synthetic) data in either BFF or PXF formats.

The tool, bff-pxf-simulator, is included as an executable (if downloaded from CPAN) or found in the utils directory (if downloaded from GitHub or Docker).

Potential uses for synthetic data

The simulated data can be used to:

  • Testing software and installations
  • Benchmarking
  • Sample classification
  • Outlier identification
  • ...
Default Ontologies used

Below are the default ontology terms utilized by the script. Please note that it is possible to use an external ontologies YAML file instead, by employing the --external-ontologies flag.

The word "ontology" is used broadly here, including terms from recognized ontologies (e.g., HPO and NCIt), as well as terminologies (e.g., (e.g., LOINC or RxNorm). While the latter do not meet the stringent criteria of ontologies, they fulfill analogous roles in facilitating data standardization.

---
diseases:
- id: OMIM:101000
  label: Neurofibromatosis, type 2
- id: OMIM:102578
  label: Leukemia, acute promyelocytic, somatic
- id: OMIM:103050
  label: Adenylosuccinase deficiency
- id: OMIM:103900
  label: Aldosteronism, glucocorticoid-remediable
- id: OMIM:104200
  label: Alport syndrome, autosomal dominant
- id: OMIM:104300
  label: Alzheimer disease, susceptibility to
- id: OMIM:105120
  label: Amyloidosis, Finnish type
- id: OMIM:105400
  label: Amyotrophic lateral sclerosis 1
- id: OMIM:105800
  label: Aneurysm, intracranial berry, 1
- id: OMIM:105830
  label: Angelman syndrome
- id: OMIM:108725
  label: Atherosclerosis, susceptibility to
- id: OMIM:108800
  label: Atrial septal defect 1
- id: OMIM:109800
  label: Bladder cancer, somatic
- id: OMIM:111200
  label: Blood group, Auberger system
- id: OMIM:111200
  label: Blood group, Lutheran system
- id: OMIM:111250
  label: Blood group, Landsteiner-Wiener
- id: OMIM:111800
  label: Blood group, Stoltzfus system
- id: OMIM:112100
  label: Blood group, Yt system
- id: OMIM:113970
  label: Burkitt lymphoma
- id: OMIM:114500
  label: Colonic adenoma recurrence, reduced risk of
- id: OMIM:114500
  label: Colorectal cancer, susceptibility to
- id: OMIM:114550
  label: Hepatocellular carcinoma, somatic
- id: OMIM:115665
  label: Cataract 8, multiple types
- id: OMIM:118450
  label: Alagille syndrome 1
- id: OMIM:121400
  label: Cornea plana 1, autosomal dominant
- id: OMIM:123320
  label: Creatine phosphokinase, elevated serum
- id: OMIM:125264
  label: Leukemia, acute nonlymphocytic
- id: OMIM:125853
  label: Diabetes, type 2, susceptibility to
- id: OMIM:125853
  label: Insulin resistance, susceptibility to
- id: OMIM:127300
  label: Leri-Weill dyschondrosteosis
- id: OMIM:127750
  label: Lewy body dementia, susceptibility to
- id: OMIM:130050
  label: Ehlers-Danlos syndrome, type IV
- id: OMIM:130060
  label: Ehlers-Danlos syndrome, type VIIB
- id: OMIM:130650
  label: Beckwith-Wiedemann syndrome
- id: OMIM:131100
  label: Multiple endocrine neoplasia 1
- id: OMIM:132100
  label: Photoparoxysmal response 1
- id: OMIM:133700
  label: Exostoses, multiple, type 1
- id: OMIM:134610
  label: Familial Mediterranean fever, AD
- id: OMIM:136120
  label: Fish-eye disease
- id: OMIM:137215
  label: Gastric cancer risk after H. pylori infection
- id: OMIM:137550
  label: Spitz nevus or nevus spilus, somatic
- id: OMIM:137580
  label: Tourette syndrome
- id: OMIM:139300
  label: Aromatase excess syndrome
- id: OMIM:140700
  label: Heinz body anemias, beta-
- id: OMIM:141200
  label: Hematuria, benign familial
- id: OMIM:141749
  label: Delta-beta thalassemia
- id: OMIM:141749
  label: Hereditary persistence of fetal hemoglobin
- id: OMIM:142335
  label: Fetal hemoglobin QTL5
- id: OMIM:142945
  label: Holoprosencephaly 3
- id: OMIM:143100
  label: Huntington disease
- id: OMIM:143465
  label: Attention deficit-hyperactivity disorder
- id: OMIM:143465
  label: Attention deficit-hyperactivity disorder, susceptibility to
- id: OMIM:143890
  label: Hypercholesterolemia, familial
- id: OMIM:143890
  label: LDL cholesterol level QTL2
- id: OMIM:144650
  label: Hyperchylomicronemia, late-onset
- id: OMIM:144700
  label: Renal cell carcinoma
- id: OMIM:145750
  label: Hypertriglyceridemia, susceptibility to
- id: OMIM:146200
  label: Hypoparathyroidism, autosomal dominant
- id: OMIM:146200
  label: Hypoparathyroidism, autosomal recessive
- id: OMIM:146510
  label: Pallister-Hall syndrome
- id: OMIM:147050
  label: Atopy, susceptibility to
- id: OMIM:147050
  label: IgE, elevated level of
- id: OMIM:147250
  label: Single median maxillary central incisor
- id: OMIM:147791
  label: Jacobsen syndrome
- id: OMIM:150699
  label: Leiomyoma, uterine, somatic
- id: OMIM:152700
  label: Lupus nephritis, susceptibility to
- id: OMIM:154800
  label: Mast cell disease
- id: OMIM:155240
  label: Medullary thyroid carcinoma, familial
- id: OMIM:155600
  label: Melanoma, cutaneous malignant, 1
- id: OMIM:157300
  label: Migraine without aura, susceptibility to
- id: OMIM:159900
  label: Dystonia-11, myoclonic
- id: OMIM:160900
  label: Myotonic dystrophy 1
- id: OMIM:162091
  label: Schwannomatosis
- id: OMIM:162900
  label: Nevus sebaceous or woolly hair nevus, somatic
- id: OMIM:163200
  label: Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic
- id: OMIM:166210
  label: Osteogenesis imperfecta, type II
- id: OMIM:166220
  label: Osteogenesis imperfecta, type IV
- id: OMIM:166710
  label: Osteoporosis, postmenopausal
- id: OMIM:166710
  label: Osteoporosis, postmenopausal, susceptibility
- id: OMIM:167210
  label: Pachyonychia congenita 2
- id: OMIM:167800
  label: Pancreatitis, hereditary
- id: OMIM:167800
  label: Pancreatitis, idiopathic
- id: OMIM:168600
  label: Parkinson disease, late-onset, susceptibility to
- id: OMIM:168600
  label: Parkinson disease, susceptibility to
- id: OMIM:170100
  label: Prolidase deficiency
- id: OMIM:171300
  label: Pheochromocytoma, susceptibility to
- id: OMIM:172700
  label: Pick disease
- id: OMIM:172800
  label: Piebaldism
- id: OMIM:174000
  label: Medullary cystic kidney disease 1
- id: OMIM:174200
  label: Polydactyly, postaxial, types A1 and B
- id: OMIM:174700
  label: Polydactyly, preaxial, type IV
- id: OMIM:175700
  label: Greig cephalopolysyndactyly syndrome
- id: OMIM:176310
  label: Leukemia, acute pre-B-cell
- id: OMIM:176807
  label: Prostate cancer, hereditary
- id: OMIM:177700
  label: Glaucoma 1, open angle, P
- id: OMIM:178500
  label: Pulmonary fibrosis, idiopathic, susceptibility to
- id: OMIM:180105
  label: Retinitis pigmentosa 10
- id: OMIM:180385
  label: Leukemia, acute T-cell
- id: OMIM:180849
  label: Rubinstein-Taybi syndrome
- id: OMIM:180860
  label: Silver-Russell syndrome
ethnicity:
- id: NCIT:C42331
  label: African
- id: NCIT:C67109
  label: Multiracial
- id: NCIT:C16352
  label: Black or African American
- id: NCIT:C41261
  label: White
- id: NCIT:C41260
  label: Asian
- id: NCIT:C17459
  label: Hispanic or Latino
exposures:
- id: NCIT:C194
  label: 4-Nitroquinoline-1-Oxide
- id: NCIT:C196
  label: Benzo(a)pyrene-7,8-diol 9,10-Epoxide
- id: NCIT:C197
  label: Dimethylbenzanthracene
- id: NCIT:C213
  label: Aflatoxin
- id: NCIT:C251
  label: Anthracene
- id: NCIT:C284
  label: Asbestos
- id: NCIT:C294
  label: Azoxymethane
- id: NCIT:C296
  label: Bacterial Toxin
- id: NCIT:C297
  label: Batrachotoxin
- id: NCIT:C302
  label: Benzene
- id: NCIT:C349
  label: Carmustine
- id: NCIT:C361
  label: Chewing Tobacco
- id: NCIT:C368
  label: Cholera Toxin
- id: NCIT:C442
  label: Dioxin Compound
- id: NCIT:C470
  label: Enterotoxin
- id: NCIT:C490
  label: Ethylene Dibromide
- id: NCIT:C541
  label: Herbicide
- id: NCIT:C645
  label: Methylnitrosourea
- id: NCIT:C671
  label: Bischloroethylsulfide
- id: NCIT:C674
  label: Mycotoxin
- id: NCIT:C688
  label: Neurotoxin
- id: NCIT:C690
  label: Nickel
- id: NCIT:C736
  label: Pertussis Toxin
- id: NCIT:C737
  label: Pesticide
- id: NCIT:C742
  label: Phorbol Ester
- id: NCIT:C760
  label: Polychlorinated Biphenyl
- id: NCIT:C809
  label: Ricin
- id: NCIT:C810
  label: Ricin A Chain
- id: NCIT:C829
  label: Tobacco Smoke
- id: NCIT:C859
  label: Teratogen
- id: NCIT:C864
  label: 2,3,7,8-Tetrachlorodibenzo-P-dioxin
- id: NCIT:C892
  label: Smokeless Tobacco
- id: NCIT:C894
  label: Toxin
- id: NCIT:C920
  label: Urethane
- id: NCIT:C936
  label: Vinyl Chloride
- id: NCIT:C951
  label: Dibenzo[a,h]anthracene
- id: NCIT:C1068
  label: Anguidine
- id: NCIT:C1069
  label: Dibenzo (a,l) pyrene
- id: NCIT:C1072
  label: 1,1-Dimethylhydrazine
- id: NCIT:C1107
  label: Fumonisin B1
- id: NCIT:C1191
  label: Phenol
- id: NCIT:C1225
  label: Shiga Toxin
- id: NCIT:C1281
  label: Biohazardous Substance
- id: NCIT:C1315
  label: Aflatoxin B1
- id: NCIT:C1449
  label: Thorium Dioxide
- id: NCIT:C1510
  label: DNA Adduct
- id: NCIT:C1645
  label: Dimethyl Ether
- id: NCIT:C1697
  label: Fungicide
- id: NCIT:C1751
  label: Pollutant
- id: NCIT:C2128
  label: Sulfur Mustard Compound
- id: NCIT:C2434
  label: Environmental Tobacco Smoke
- id: NCIT:C26451
  label: Anthraquinone
- id: NCIT:C26563
  label: Ethylnitrosourea
- id: NCIT:C28130
  label: Acrylonitrile
- id: NCIT:C28131
  label: Arsenic
- id: NCIT:C28140
  label: Chlorine
- id: NCIT:C28171
  label: narcotic
- id: NCIT:C28183
  label: Radioactive Fallout
- id: NCIT:C28202
  label: Nitric Acid
- id: NCIT:C29354
  label: Permethrin
- id: NCIT:C29727
  label: Pediculicide
- id: NCIT:C29744
  label: Formaldehyde
- id: NCIT:C29768
  label: 1-Aminobenzo[a]pyrene
- id: NCIT:C29779
  label: 1-Nitrobenzo[a]pyrene
- id: NCIT:C29780
  label: 1-Nitrobenzo[a]pyrene trans-7,8-Dihydrodiol
- id: NCIT:C29781
  label: 1-Nitropyrene
- id: NCIT:C29787
  label: 1,2-Dimethylhydrazine
- id: NCIT:C29788
  label: 1,2-Dimethylhydrazine Dihydrochloride
- id: NCIT:C29789
  label: 1,2,5,6-Dibenzanthracene
- id: NCIT:C29790
  label: 1,3-Butadiene
- id: NCIT:C29791
  label: 2-Acetylaminofluorene
- id: NCIT:C29792
  label: 2-Amino-1-Methyl-6-Phenylimidazo[4,5-b]Pyridine
- id: NCIT:C29793
  label: 2-Amino-3,4-Dimethylimidazole[4,5-f]quinoline
- id: NCIT:C29794
  label: 2-Fluoroadenine
- id: NCIT:C29795
  label: 20-Methylcholanthrene
- id: NCIT:C29797
  label: 3-Aminobenzo[a]pyrene
- id: NCIT:C29798
  label: 3-Nitrobenzo[a]pyrene
- id: NCIT:C29799
  label: 3-Nitrobenzo[a]pyrene trans-7,8-Dihydrodiol
- id: NCIT:C29800
  label: 3,4-Benzpyrene
- id: NCIT:C29801
  label: 4-Methylnitrosamino-1,3-pyridyl-1-butanone
- id: NCIT:C29802
  label: 4-Nitroquinoline N-oxide
- id: NCIT:C29803
  label: 4-o-Tolylazo-o-Toluidine
- id: NCIT:C29804
  label: 5-Methylchrysene
- id: NCIT:C29805
  label: 6-Nitrochrysene
- id: NCIT:C29806
  label: 9,10-Dimethyl-1,2-Benzanthracene
- id: NCIT:C29807
  label: Acetone
- id: NCIT:C29808
  label: Benzo[a]pyrene
- id: NCIT:C29809
  label: Benzo[a]pyrene trans-7,8-Dihydrodiol
- id: NCIT:C29810
  label: Benzo[b]fluoranthene
- id: NCIT:C29811
  label: Benzotrichloride
- id: NCIT:C29813
  label: Carbon Disulfide
- id: NCIT:C29814
  label: Chlordane
- id: NCIT:C29815
  label: Chloroform
- id: NCIT:C29816
  label: Crocidolite Asbestos
- id: NCIT:C29817
  label: Croton Oil
- id: NCIT:C29818
  label: Cyclopenta[cd]pyrene
- id: NCIT:C29820
  label: Ethyl Methanesulfonate
- id: NCIT:C29821
  label: Ethylene Oxide
- id: NCIT:C29822
  label: Ferric-Nitrilotriacetate
- id: NCIT:C29823
  label: Hydroquinone
phenotypicFeatures:
- id: HP:0000020
  label: Urinary incontinence
- id: HP:0000055
  label: Abnormality of female external genitalia
- id: HP:0000141
  label: Amenorrhea
- id: HP:0000553
  label: Abnormal uvea morphology
- id: HP:0000630
  label: Abnormal retinal artery morphology
- id: HP:0000632
  label: Lacrimation abnormality
- id: HP:0000729
  label: Autistic behavior
- id: HP:0000953
  label: Hyperpigmentation of the skin
- id: HP:0001300
  label: Parkinsonism
- id: HP:0001471
  label: Aplasia/Hypoplasia of the musculature of the pelvis
- id: HP:0001473
  label: Metatarsal osteolysis
- id: HP:0001609
  label: Hoarse voice
- id: HP:0001629
  label: Ventricular septal defect
- id: HP:0001730
  label: Progressive hearing impairment
- id: HP:0001874
  label: Abnormality of neutrophils
- id: HP:0002123
  label: Generalized myoclonic seizure
- id: HP:0002418
  label: Abnormal midbrain morphology
- id: HP:0002597
  label: Abnormality of the vasculature
- id: HP:0002857
  label: Genu valgum
- id: HP:0002863
  label: Myelodysplasia
- id: HP:0002963
  label: Abnormal delayed hypersensitivity skin test
- id: HP:0003174
  label: Abnormality of the ischium
- id: HP:0003366
  label: Abnormal femoral neck/head morphology
- id: HP:0003963
  label: Lytic defects of the forearm bones
- id: HP:0004150
  label: Abnormal 3rd finger morphology
- id: HP:0004362
  label: Abnormality of enteric ganglion morphology
- id: HP:0004736
  label: Crossed fused renal ectopia
- id: HP:0005035
  label: Shortening of all phalanges of the toes
- id: HP:0005656
  label: Positional foot deformity
- id: HP:0005830
  label: Flexion contracture of toe
- id: HP:0006817
  label: Aplasia/Hypoplasia of the cerebellar vermis
- id: HP:0007400
  label: Irregular hyperpigmentation
- id: HP:0008066
  label: Abnormal blistering of the skin
- id: HP:0008264
  label: Neutrophil inclusion bodies
- id: HP:0009138
  label: Synostosis involving bones of the lower limbs
- id: HP:0009404
  label: Broad phalanges of the 4th finger
- id: HP:0009412
  label: Cone-shaped epiphyses of the 3rd finger
- id: HP:0009421
  label: Aplasia/Hypoplasia of the distal phalanx of the 3rd finger
- id: HP:0009489
  label: Bracket epiphyses of the 2nd finger
- id: HP:0009500
  label: Abnormality of the epiphysis of the middle phalanx of the 2nd finger
- id: HP:0009618
  label: Abnormality of the proximal phalanx of the thumb
- id: HP:0009810
  label: Abnormality of upper limb joint
- id: HP:0010160
  label: Abnormal toe epiphysis morphology
- id: HP:0010178
  label: Patchy sclerosis of toe phalanx
- id: HP:0010250
  label: Fragmentation of the epiphyses of the distal phalanges of the hand
- id: HP:0010501
  label: Limitation of knee mobility
- id: HP:0010514
  label: Hyperpituitarism
- id: HP:0010784
  label: Uterine neoplasm
- id: HP:0010841
  label: Multifocal epileptiform discharges
- id: HP:0010930
  label: Abnormal blood monovalent inorganic cation concentration
- id: HP:0010969
  label: Abnormality of glycolipid metabolism
- id: HP:0011037
  label: Decreased urine output
- id: HP:0011123
  label: Inflammatory abnormality of the skin
- id: HP:0011176
  label: EEG with constitutional variants
- id: HP:0011315
  label: Unicoronal synostosis
- id: HP:0011488
  label: Abnormal corneal endothelium morphology
- id: HP:0011636
  label: Abnormal coronary artery origin
- id: HP:0012034
  label: Liposarcoma
- id: HP:0012092
  label: Abnormality of exocrine pancreas physiology
- id: HP:0012210
  label: Abnormal renal morphology
- id: HP:0012310
  label: Abnormal monocyte count
- id: HP:0012780
  label: Neoplasm of the ear
- id: HP:0012836
  label: Spatial pattern
- id: HP:0025429
  label: Abnormal cry
- id: HP:0025487
  label: Abnormality of bladder morphology
- id: HP:0025592
  label: Superior oblique muscle weakness
- id: HP:0025646
  label: Bilateral polymicrogyria
- id: HP:0030047
  label: Abnormal lateral ventricle morphology
- id: HP:0030113
  label: Abnormal muscle fiber dysferlin
- id: HP:0030119
  label: Abnormal muscle fiber calpain-3
- id: HP:0030493
  label: Abnormality of foveal pigmentation
- id: HP:0030604
  label: Abnormal fundus fluorescein angiography
- id: HP:0030746
  label: Intraventricular hemorrhage
- id: HP:0030828
  label: Wheezing
- id: HP:0031607
  label: Pelvic organ prolapse
- id: HP:0031704
  label: Abnormal ear physiology
- id: HP:0031753
  label: Medial rectus muscle weakness
- id: HP:0032011
  label: Heterophoria
- id: HP:0032184
  label: Increased proportion of memory T cells
- id: HP:0032422
  label: Abnormal HDL2b concentration
- id: HP:0032900
  label: Focal manual automatism seizure
- id: HP:0033095
  label: Increased sulfur amino acid level in urine
- id: HP:0033823
  label: Mediastinal mass
- id: HP:0034022
  label: Anti-HLA-B antibody positivity
- id: HP:0040195
  label: Decreased head circumference
- id: HP:0100569
  label: Abnormally ossified vertebrae
- id: HP:0100612
  label: Odontogenic neoplasm
- id: HP:0200040
  label: Epidermoid cyst
- id: HP:0200042
  label: Skin ulcer
- id: HP:0200065
  label: Chorioretinal degeneration
- id: HP:0200114
  label: Metabolic alkalosis
- id: HP:0200160
  label: Agenesis of maxillary incisor
- id: HP:0410033
  label: Unilateral alveolar cleft of maxilla
- id: HP:0500020
  label: Abnormal cardiac biomarker test
- id: HP:0500073
  label: Abnormal ocular alignment
- id: HP:0500093
  label: Food allergy
- id: HP:0500155
  label: Abnormal circulating asparagine concentration
- id: HP:0500158
  label: Abnormal circulating aspartic acid concentration
- id: HP:5200018
  label: Abnormal movements of the upper extremities
- id: HP:5200027
  label: Abnormal social initiation
procedures:
- id: NCIT:C1447
  label: Barium Enema Injection
- id: NCIT:C15189
  label: Biopsy
- id: NCIT:C15190
  label: Needle Biopsy
- id: NCIT:C15193
  label: Bone Marrow Biopsy
- id: NCIT:C15220
  label: Diagnosis
- id: NCIT:C15317
  label: Second-Look Surgery
- id: NCIT:C15327
  label: Lumbar Puncture
- id: NCIT:C15361
  label: Fine-Needle Aspiration
- id: NCIT:C15385
  label: Excisional Biopsy
- id: NCIT:C15386
  label: Incisional Biopsy
- id: NCIT:C15387
  label: Shave Biopsy
- id: NCIT:C15389
  label: Endoscopic Biopsy
- id: NCIT:C15403
  label: Endocervical Curettage
- id: NCIT:C15406
  label: Cancer Screening
- id: NCIT:C15419
  label: Disease Screening
- id: NCIT:C15427
  label: Lymph Node Dissection
- id: NCIT:C15546
  label: Breast Cancer Screening
- id: NCIT:C15547
  label: Screening for Skin Cancer
- id: NCIT:C15548
  label: Screening for Oral Cancer
- id: NCIT:C15549
  label: Screening for Colorectal Cancer
- id: NCIT:C15550
  label: Screening for Prostate Cancer
- id: NCIT:C15552
  label: Screening for Testicular Cancer
- id: NCIT:C15567
  label: Screening for Gastric Cancer
- id: NCIT:C15575
  label: Screening for Lung Cancer
- id: NCIT:C15576
  label: Screening for Ovarian Cancer
- id: NCIT:C15607
  label: Clinical Diagnosis
- id: NCIT:C15608
  label: Staging
- id: NCIT:C15638
  label: Genetic Testing for Cancer Risk
- id: NCIT:C15641
  label: Screening for Neuroblastoma
- id: NCIT:C15644
  label: Bone Marrow Aspiration
- id: NCIT:C15652
  label: Image Guided Biopsy
- id: NCIT:C15667
  label: Sentinel Lymph Node Biopsy
- id: NCIT:C15671
  label: Screening for Endometrial Cancer
- id: NCIT:C15680
  label: Core Biopsy
- id: NCIT:C15703
  label: Colposcopic Biopsy
- id: NCIT:C15741
  label: Screening for Hepatocellular Cancer
- id: NCIT:C15775
  label: Breast Cancer Detection Research
- id: NCIT:C15776
  label: Cancer Detection
- id: NCIT:C15795
  label: Detection of Measurable Residual Disease
- id: NCIT:C15842
  label: Prevention, Early Detection of Premalignant Lesions
- id: NCIT:C15960
  label: Blood Screening
- id: NCIT:C16094
  label: Cardiac Function Study
- id: NCIT:C16107
  label: Non-Invasive Cancer Detection
- id: NCIT:C16209
  label: Early Detection
- id: NCIT:C16210
  label: Detection
- id: NCIT:C16213
  label: Cancer Diagnosis
- id: NCIT:C16291
  label: Digital Subtraction Angiography
- id: NCIT:C16308
  label: Arteriography
- id: NCIT:C16430
  label: Endoscopic Retrograde Cholangiopancreatography
- id: NCIT:C16451
  label: Colposcopy
- id: NCIT:C16502
  label: Diagnostic Imaging
- id: NCIT:C16525
  label: Echocardiography
- id: NCIT:C16546
  label: Endoscopic Procedure
- id: NCIT:C16560
  label: Esophagoscopy
- id: NCIT:C16587
  label: Fluorophotometry
- id: NCIT:C16588
  label: Fluoroscopy
- id: NCIT:C16781
  label: Laryngoscopy
- id: NCIT:C16806
  label: Lymphography
- id: NCIT:C16809
  label: Magnetic Resonance Imaging
- id: NCIT:C16810
  label: Magnetic Resonance Spectroscopy
- id: NCIT:C16811
  label: Magnetoencephalography
- id: NCIT:C16818
  label: Mammography
- id: NCIT:C16829
  label: Mediastinoscopy
- id: NCIT:C16950
  label: Palpation
- id: NCIT:C16969
  label: Laparoscopy
- id: NCIT:C17007
  label: Positron Emission Tomography
- id: NCIT:C17012
  label: Proctoscopy
- id: NCIT:C17131
  label: Sigmoidoscopy
- id: NCIT:C17137
  label: Skin Test
- id: NCIT:C17194
  label: Thermography
- id: NCIT:C17196
  label: Thoracoscopy
- id: NCIT:C17203
  label: Single Photon Emission Computed Tomography
- id: NCIT:C17204
  label: Computed Tomography
- id: NCIT:C17261
  label: Diagnostic Radiology
- id: NCIT:C17263
  label: Xeroradiography
- id: NCIT:C17348
  label: Pap Smear
- id: NCIT:C17369
  label: Imaging Technique
- id: NCIT:C17436
  label: Immunoscintigraphy
- id: NCIT:C17454
  label: Diagnostic Test
- id: NCIT:C17558
  label: Echo-Planar Imaging
- id: NCIT:C17631
  label: Digital Rectal Examination
- id: NCIT:C17639
  label: Upper Gastrointestinal Series
- id: NCIT:C17641
  label: Percutaneous Transhepatic Cholangiography
- id: NCIT:C17644
  label: Transvaginal Ultrasound
- id: NCIT:C17645
  label: Radionuclide Scanning
- id: NCIT:C17646
  label: Bone Scan
- id: NCIT:C17869
  label: Assessment of Gonadal Function
- id: NCIT:C17958
  label: Functional Magnetic Resonance Imaging
- id: NCIT:C18001
  label: Digital X-Ray
- id: NCIT:C18020
  label: Diagnostic Procedure
- id: NCIT:C18151
  label: Diaphanography
- id: NCIT:C18190
  label: Histopathologic Examination
- id: NCIT:C18210
  label: Lymph Node Mapping
- id: NCIT:C18315
  label: Transrectal Ultrasound
- id: NCIT:C18467
  label: Digital Mammography
- id: NCIT:C18485
  label: Three-Dimensional Imaging
- id: NCIT:C18869
  label: Medical Imaging, Virtual Reality
- id: NCIT:C18980
  label: Radiation Ionizing, Diagnostic Imaging
- id: NCIT:C18981
  label: Radiation Non-Ionizing, Diagnostic Imaging
- id: NCIT:C19174
  label: Lower GI Series
treatments:
- id: RxNorm:1000000
  label: amlodipine 5 MG / hydrochlorothiazide 12.5 MG / olmesartan medoxomil 40 MG
    Oral Tablet [Tribenzor]
- id: RxNorm:1000001
  label: amlodipine 5 MG / hydrochlorothiazide 25 MG / olmesartan medoxomil 40 MG
    Oral Tablet
- id: RxNorm:1000005
  label: amlodipine 5 MG / hydrochlorothiazide 25 MG / olmesartan medoxomil 40 MG
    Oral Tablet [Tribenzor]
- id: RxNorm:1000009
  label: dimethicone 100 MG/ML / miconazole nitrate 20 MG/ML / zinc oxide 100 MG/ML
    Topical Spray
- id: RxNorm:1000048
  label: doxepin 10 MG Oral Capsule
- id: RxNorm:1000054
  label: doxepin 10 MG/ML Oral Solution
- id: RxNorm:1000058
  label: doxepin 100 MG Oral Capsule
- id: RxNorm:1000064
  label: doxepin 150 MG Oral Capsule
- id: RxNorm:1000070
  label: doxepin 25 MG Oral Capsule
- id: RxNorm:1000076
  label: doxepin 50 MG Oral Capsule
- id: RxNorm:1000085
  label: alcaftadine 2.5 MG/ML Ophthalmic Solution
- id: RxNorm:1000089
  label: alcaftadine 2.5 MG/ML Ophthalmic Solution [Lastacaft]
- id: RxNorm:1000091
  label: doxepin hydrochloride 50 MG/ML Topical Cream
- id: RxNorm:1000093
  label: doxepin hydrochloride 50 MG/ML Topical Cream [Prudoxin]
- id: RxNorm:1000095
  label: doxepin hydrochloride 50 MG/ML Topical Cream [Zonalon]
- id: RxNorm:1000097
  label: doxepin 75 MG Oral Capsule
- id: RxNorm:1000107
  label: incobotulinumtoxinA 200 UNT Injection
- id: RxNorm:1000114
  label: medroxyprogesterone acetate 10 MG Oral Tablet
- id: RxNorm:1000124
  label: medroxyprogesterone acetate 10 MG Oral Tablet [Provera]
- id: RxNorm:1000126
  label: 1 ML medroxyprogesterone acetate 150 MG/ML Injection
- id: RxNorm:1000128
  label: 1 ML medroxyprogesterone acetate 150 MG/ML Injection [Depo-Provera]
- id: RxNorm:1000131
  label: medroxyprogesterone acetate 400 MG/ML Injectable Suspension
- id: RxNorm:1000133
  label: medroxyprogesterone acetate 400 MG/ML Injectable Suspension [Depo-Provera]
- id: RxNorm:1000135
  label: medroxyprogesterone acetate 2.5 MG Oral Tablet
- id: RxNorm:1000139
  label: medroxyprogesterone acetate 2.5 MG Oral Tablet [Provera]
- id: RxNorm:1000141
  label: medroxyprogesterone acetate 5 MG Oral Tablet
- id: RxNorm:1000145
  label: medroxyprogesterone acetate 5 MG Oral Tablet [Provera]
- id: RxNorm:1000153
  label: 1 ML medroxyprogesterone acetate 150 MG/ML Prefilled Syringe
- id: RxNorm:1000154
  label: 1 ML medroxyprogesterone acetate 150 MG/ML Prefilled Syringe [Depo-Provera]
- id: RxNorm:1000156
  label: 0.65 ML medroxyprogesterone acetate 160 MG/ML Prefilled Syringe
- id: RxNorm:1000158
  label: 0.65 ML medroxyprogesterone acetate 160 MG/ML Prefilled Syringe [depo-subQ
    provera]
- id: RxNorm:1000351
  label: estrogens, conjugated (USP) 0.3 MG / medroxyprogesterone acetate 1.5 MG Oral
    Tablet
- id: RxNorm:1000352
  label: estrogens, conjugated (USP) 0.45 MG / medroxyprogesterone acetate 1.5 MG
    Oral Tablet
- id: RxNorm:1000355
  label: estrogens, conjugated (USP) 0.625 MG / medroxyprogesterone acetate 2.5 MG
    Oral Tablet
- id: RxNorm:1000356
  label: estrogens, conjugated (USP) 0.625 MG / medroxyprogesterone acetate 5 MG Oral
    Tablet
- id: RxNorm:1000395
  label: '{28 (estrogens, conjugated (USP) 0.625 MG / medroxyprogesterone acetate
    2.5 MG Oral Tablet) } Pack'
- id: RxNorm:1000398
  label: '{28 (estrogens, conjugated (USP) 0.625 MG / medroxyprogesterone acetate
    5 MG Oral Tablet) } Pack'
- id: RxNorm:1000405
  label: norethindrone acetate 5 MG Oral Tablet
- id: RxNorm:1000407
  label: norethindrone acetate 5 MG Oral Tablet [Aygestin]
- id: RxNorm:1000479
  label: '{1 (bisacodyl 5 MG Delayed Release Oral Tablet) / 1 (2000 ML) (polyethylene
    glycol 3350 210000 MG / potassium chloride 740 MG / sodium bicarbonate 2860 MG
    / sodium chloride 5600 MG Powder for Oral Solution) } Pack'
- id: RxNorm:1000486
  label: '{14 (estrogens, conjugated (USP) 0.625 MG / medroxyprogesterone acetate
    5 MG Oral Tablet) / 14 (estrogens, conjugated (USP) 0.625 MG Oral Tablet) } Pack'
- id: RxNorm:1000487
  label: '{14 (estrogens, conjugated (USP) 0.625 MG / medroxyprogesterone acetate
    5 MG Oral Tablet) / 14 (estrogens, conjugated (USP) 0.625 MG Oral Tablet) } Pack
    [Premphase 28 Day]'
- id: RxNorm:1000490
  label: '{28 (estrogens, conjugated (USP) 0.3 MG / medroxyprogesterone acetate 1.5
    MG Oral Tablet) } Pack'
- id: RxNorm:1000491
  label: '{28 (estrogens, conjugated (USP) 0.3 MG / medroxyprogesterone acetate 1.5
    MG Oral Tablet) } Pack [Prempro 0.3/1.5 28 Day]'
- id: RxNorm:1000495
  label: resveratrol 250 MG Oral Capsule
- id: RxNorm:1000496
  label: '{28 (estrogens, conjugated (USP) 0.45 MG / medroxyprogesterone acetate 1.5
    MG Oral Tablet) } Pack'
- id: RxNorm:1000497
  label: '{28 (estrogens, conjugated (USP) 0.45 MG / medroxyprogesterone acetate 1.5
    MG Oral Tablet) } Pack [Prempro 0.45/1.5 28 Day]'
- id: RxNorm:1000499
  label: '{28 (estrogens, conjugated (USP) 0.625 MG / medroxyprogesterone acetate
    2.5 MG Oral Tablet) } Pack [Prempro 0.625/2.5 28 Day]'
- id: RxNorm:1000500
  label: '{28 (estrogens, conjugated (USP) 0.625 MG / medroxyprogesterone acetate
    5 MG Oral Tablet) } Pack [Prempro 0.625/5 28 Day]'
- id: RxNorm:1000502
  label: dextromethorphan hydrobromide 6 MG/ML / guaifenesin 40 MG/ML / phenylephrine
    hydrochloride 1.5 MG/ML Oral Solution
- id: RxNorm:1000556
  label: fluorometholone 1 MG/ML / sulfacetamide sodium 100 MG/ML Ophthalmic Suspension
- id: RxNorm:1000558
  label: fluorometholone 1 MG/ML / sulfacetamide sodium 100 MG/ML Ophthalmic Suspension
    [FML-S]
- id: RxNorm:1000636
  label: dimethicone 12.5 MG/ML Topical Lotion
- id: RxNorm:1000647
  label: pilocarpine hydrochloride 10 MG/ML Ophthalmic Solution
- id: RxNorm:1000656
  label: pilocarpine hydrochloride 10 MG/ML Ophthalmic Solution [Isoptocarpine]
- id: RxNorm:1000660
  label: pilocarpine hydrochloride 10 MG/ML Ophthalmic Solution [Pilocar]
- id: RxNorm:1000673
  label: sulfacetamide sodium 0.1 MG/MG Ophthalmic Ointment
- id: RxNorm:1000713
  label: sulfacetamide sodium 0.1 MG/MG Topical Gel
- id: RxNorm:1000720
  label: sulfacetamide sodium 100 MG/ML / sulfur 10 MG/ML Medicated Liquid Soap [BP
    10-Wash]
- id: RxNorm:1000731
  label: sulfacetamide sodium 100 MG/ML / sulfur 20 MG/ML Topical Cream
- id: RxNorm:1000736
  label: sulfacetamide sodium 100 MG/ML / sulfur 20 MG/ML Topical Cream [Avar]
- id: RxNorm:1000859
  label: sulfacetamide sodium 100 MG/ML / sulfur 40 MG/ML Medicated Liquid Soap
- id: RxNorm:1000861
  label: sulfacetamide sodium 100 MG/ML / sulfur 40 MG/ML Medicated Liquid Soap [BP
    Cleansing Wash]
- id: RxNorm:1000862
  label: pilocarpine hydrochloride 20 MG/ML Ophthalmic Solution
- id: RxNorm:1000870
  label: pilocarpine hydrochloride 20 MG/ML Ophthalmic Solution [Isoptocarpine]
- id: RxNorm:1000876
  label: pilocarpine hydrochloride 20 MG/ML Ophthalmic Solution [Pilocar]
- id: RxNorm:1000895
  label: sulfacetamide sodium 100 MG/ML / sulfur 20 MG/ML Medicated Liquid Soap
- id: RxNorm:1000897
  label: pilocarpine hydrochloride 40 MG/ML Ophthalmic Solution
- id: RxNorm:1000903
  label: pilocarpine hydrochloride 40 MG/ML Ophthalmic Solution [Isoptocarpine]
- id: RxNorm:1000907
  label: pilocarpine hydrochloride 40 MG/ML Ophthalmic Solution [Pilocar]
- id: RxNorm:1000913
  label: pilocarpine hydrochloride 5 MG Oral Tablet
- id: RxNorm:1000915
  label: pilocarpine hydrochloride 5 MG Oral Tablet [Salagen]
- id: RxNorm:1000946
  label: sulfacetamide sodium 100 MG/ML / sulfur 40 MG/ML Medicated Pad
- id: RxNorm:1000976
  label: sulfacetamide sodium 100 MG/ML / sulfur 40 MG/ML Medicated Pad [Sumaxin]
- id: RxNorm:1000981
  label: oxymetazoline hydrochloride 0.25 MG/ML Ophthalmic Solution
- id: RxNorm:1000990
  label: oxymetazoline hydrochloride 0.5 MG/ML Nasal Spray
- id: RxNorm:1000992
  label: oxymetazoline hydrochloride 0.5 MG/ML Nasal Spray [Afrin]
- id: RxNorm:1000994
  label: oxymetazoline hydrochloride 0.5 MG/ML Nasal Spray [Allerest 12 Hour Nasal
    Spray]
- id: RxNorm:1000996
  label: oxymetazoline hydrochloride 0.5 MG/ML Nasal Spray [Dristan 12-Hour Nasal
    Spray]
- id: RxNorm:1001002
  label: oxymetazoline hydrochloride 0.5 MG/ML Nasal Spray [Duramist Plus]
- id: RxNorm:1001004
  label: pilocarpine hydrochloride 7.5 MG Oral Tablet
- id: RxNorm:1001006
  label: pilocarpine hydrochloride 7.5 MG Oral Tablet [Salagen]
- id: RxNorm:1001054
  label: oxymetazoline hydrochloride 0.5 MG/ML Nasal Spray [Neo-Synephrine 12 Hour]
- id: RxNorm:1001058
  label: oxymetazoline hydrochloride 0.5 MG/ML Nasal Spray [Nostrilla]
- id: RxNorm:1001066
  label: oxymetazoline hydrochloride 0.5 MG/ML Nasal Spray [Sinex Long-Acting]
- id: RxNorm:1001084
  label: oxymetazoline hydrochloride 0.5 MG/ML Nasal Spray [Zicam Sinus Relief]
- id: RxNorm:1001405
  label: docetaxel 20 MG/ML Injectable Solution
- id: RxNorm:1001409
  label: calcium carbonate 625 MG / ergocalciferol 125 UNT Oral Tablet
- id: RxNorm:1001433
  label: 1.5 ML cabazitaxel 40 MG/ML Injection
- id: RxNorm:1001437
  label: caffeine 50 MG / magnesium salicylate 162.5 MG Oral Tablet
- id: RxNorm:1001476
  label: aspirin 325 MG Delayed Release Oral Tablet [Ecpirin]
- id: RxNorm:1001591
  label: fibrinogen, human 337 MG / thrombin, human 123 UNT Medicated Patch
- id: RxNorm:1001593
  label: fibrinogen, human 337 MG / thrombin, human 123 UNT Medicated Patch [TachoSil]
- id: RxNorm:1001679
  label: calcium carbonate 400 MG / cholecalciferol 133 UNT / magnesium oxide 167
    MG Oral Tablet
- id: RxNorm:1001689
  label: '{2 (480 ML) (magnesium sulfate 0.0277 MEQ/ML / potassium sulfate 0.0374
    MEQ/ML / sodium sulfate 0.257 MEQ/ML Oral Solution) } Pack'
- id: RxNorm:1001690
  label: '{2 (480 ML) (magnesium sulfate 0.0277 MEQ/ML / potassium sulfate 0.0374
    MEQ/ML / sodium sulfate 0.257 MEQ/ML Oral Solution) } Pack [Suprep Bowel Prep
    Kit]'
- id: RxNorm:1001691
  label: calcium carbonate 1250 MG / cholecalciferol 100 UNT / vitamin K1 0.04 MG
    Chewable Tablet
- id: RxNorm:1001714
  label: sulfacetamide sodium 90 MG/ML / sulfur 40 MG/ML Medicated Liquid Soap
- id: RxNorm:1001718
  label: sulfacetamide sodium 90 MG/ML / sulfur 40 MG/ML Medicated Liquid Soap [Zencia
    Wash]
- id: RxNorm:1001751
  label: calcium citrate 250 MG / cholecalciferol 100 UNT Oral Tablet

NAME

bff-pxf-simulator: A script that creates a JSON array of simulated BFF/PXF

SYNOPSIS

bff-pxf-simulator [-options]

  Options:
    -f, --format <format>            Format [bff|pxf]
    -n, --number <number>            Set the number of individuals to generate [100]
    -o, --output <file>              Output file [individuals.json]
    --external-ontologies <file>     Path to a YAML file containing ontology terms
    --random-seed <seed>             Initializes pseudorandom number sequences (seed must be an integer)

    --diseases <number>              Set the number of diseases per individual [1]
    --exposures <number>             Set the number of exposures per individual [1]
    --phenotypicFeatures <number>    Set the number of phenotypic features per individual [1]
    --procedures <number>            Set the number of procedures per individual [1]
    --treatments <number>            Set the number of treatments per individual [1]
    --max-[term]-pool <size>         Limit the selection to the first N elements of the term array
    --max-ethnicity-pool <size>      Restrict the ethnicity pool size; each individual will have only one ethnicity

  Generic Options:
    -debug <level>                   Print debugging (from 1 to 5, being 5 max)
    -h, --help                       Brief help message
    -man                             Full documentation
    -v, --verbose                    Verbosity on
    -V, --version                    Print version

DESCRIPTION

This script generates a JSON array of simulated BFF/PXF data. The files can be created based on pre-loaded ontologies or by utilizing an external YAML file.

SUMMARY

A script that creates a JSON array of simulated BFF/PXF.

Implemented array terms:

BFF: diseases, exposures, interventionsOrProcedures, phenotypicFeatures, treatments.

procedures = interventionsOrProcedures

PXF: interventionsOrProcedures, medicalActions.procedure, medicalActions.treatment, phenotypicFeatures.

procedures = medicalActions.procedure

treatments = medicalActions.treatment

INSTALLATION

(only needed if you did not install Pheno-Ranker)

$ cpanm --installdeps .

System requirements

* Ideally a Debian-based distribution (Ubuntu or Mint), but any other (e.g., CentOs, OpenSuse) should do as well.
* Perl 5 (>= 5.10 core; installed by default in most Linux distributions). Check the version with "perl -v"
* 1GB of RAM.
* 1 core (it only uses one core per job).
* At least 1GB HDD.

HOW TO RUN BFF-PXF-SIMULATOR

When run without any arguments, the software will use default settings. To modify any parameters, please refer to the synopsis for guidance.

If you prefer not to include a specific term in the analysis, set its value to zero. For example:

--treatments 0

Examples:

$ ./bff-pxf-simulator -f pxf  # BFF with 100 samples

$ ./bff-pxf-simulator -f pxf -n 1000 -o pxf.json # PXF with 1K samples and saved to pxf.json

$ ./bff-pxf-simulator -phenotypicFeatures 10 # BFF with 100 samples and 10 pF each

$ ./bff-pxf-simulator -diseases 0 -exposures 0 -procedures 0 -phenotypicFeatures 0 -treatments 0 # Only sex and ethnicity

COMMON ERRORS AND SOLUTIONS

* Error message: Foo
  Solution: Bar

* Error message: Foo
  Solution: Bar

AUTHOR

Written by Manuel Rueda, PhD. Info about CNAG can be found at https://www.cnag.eu.

COPYRIGHT AND LICENSE

This PERL file is copyrighted. See the LICENSE file included in this distribution.