pheval 0.1.0__py3-none-any.whl → 0.2.0__py3-none-any.whl
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- pheval/__init__.py +0 -5
- pheval/analyse/__init__.py +0 -0
- pheval/analyse/analysis.py +703 -0
- pheval/analyse/generate_plots.py +312 -0
- pheval/analyse/generate_summary_outputs.py +186 -0
- pheval/analyse/rank_stats.py +61 -0
- pheval/cli.py +22 -7
- pheval/cli_pheval.py +37 -12
- pheval/cli_pheval_utils.py +225 -8
- pheval/config_parser.py +36 -0
- pheval/constants.py +1 -0
- pheval/implementations/__init__.py +1 -3
- pheval/post_processing/__init__.py +0 -0
- pheval/post_processing/post_processing.py +210 -0
- pheval/prepare/__init__.py +0 -0
- pheval/prepare/create_noisy_phenopackets.py +173 -0
- pheval/prepare/create_spiked_vcf.py +366 -0
- pheval/prepare/custom_exceptions.py +47 -0
- pheval/prepare/update_phenopacket.py +53 -0
- pheval/resources/alternate_ouputs/CADA_results.txt +11 -0
- pheval/resources/alternate_ouputs/DeepPVP_results.txt +22 -0
- pheval/resources/alternate_ouputs/OVA_results.txt +11 -0
- pheval/resources/alternate_ouputs/Phen2Gene_results.json +814 -0
- pheval/resources/alternate_ouputs/Phenolyzer_results.txt +12 -0
- pheval/resources/alternate_ouputs/lirical_results.tsv +152 -0
- pheval/resources/alternate_ouputs/svanna_results.tsv +9 -0
- pheval/resources/hgnc_complete_set_2022-10-01.txt +43222 -0
- pheval/run_metadata.py +27 -0
- pheval/runners/runner.py +92 -11
- pheval/utils/__init__.py +0 -0
- pheval/utils/docs_gen.py +105 -0
- pheval/utils/docs_gen.sh +18 -0
- pheval/utils/file_utils.py +88 -0
- pheval/utils/phenopacket_utils.py +356 -0
- pheval/utils/semsim_utils.py +156 -0
- {pheval-0.1.0.dist-info → pheval-0.2.0.dist-info}/METADATA +12 -4
- pheval-0.2.0.dist-info/RECORD +41 -0
- {pheval-0.1.0.dist-info → pheval-0.2.0.dist-info}/WHEEL +1 -1
- pheval/utils.py +0 -7
- pheval-0.1.0.dist-info/RECORD +0 -13
- {pheval-0.1.0.dist-info → pheval-0.2.0.dist-info}/LICENSE +0 -0
- {pheval-0.1.0.dist-info → pheval-0.2.0.dist-info}/entry_points.txt +0 -0
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Rank Gene_name Description Ensembl_id Biological_process_score molecular_function_score cellular_component_score phenotype_score annotations
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1 GCDH ENSG00000105607 0.2635873775029657 0.5828617197479015 0.8638644833554514 0.0 oxidoreductase activity, acting on the CH-CH group of donors, flavin adenine dinucleotide binding, fatty acid oxidation, mitochondrion, mitochondrial matrix, oxidoreductase activity, glutaryl-CoA dehydrogenase activity, tryptophan metabolic process, oxidation-reduction process, acyl-CoA dehydrogenase activity, fatty-acyl-CoA biosynthetic process, fatty-acyl-CoA binding, metabolic process, mitochondrial inner membrane, lysine catabolic process, acyl-CoA metabolic process, cellular nitrogen compound metabolic process, small molecule metabolic process,
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2 HMGCL ENSG00000117305 0.31415071302593156 0.6714450251798649 0.8968742331229438 0.0 response to nutrient, embryo development, mitochondrial matrix, metal ion binding, peroxisome, ketone body biosynthetic process, hydroxymethylglutaryl-CoA lyase activity, carboxylic acid binding, acyl-CoA metabolic process, catalytic activity, liver development, small molecule metabolic process, cellular lipid metabolic process, mitochondrion organization, cellular ketone body metabolic process, response to fatty acid, protein tetramerization, manganese ion binding, mitochondrion, response to starvation, protein homodimerization activity, fatty-acyl-CoA binding, receptor binding, leucine catabolic process, mitochondrial inner membrane, magnesium ion binding,
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3 ALDH5A1 ENSG00000112294 0.22761169092642297 0.37387796094589454 0.7700125202400151 0.0 post-embryonic development, gamma-aminobutyric acid catabolic process, mitochondrial matrix, succinate-semialdehyde dehydrogenase (NAD+) activity, protein homotetramerization, synaptic transmission, central nervous system development, oxidation-reduction process, respiratory electron transport chain, gamma-aminobutyric acid metabolic process, metabolic process, neurotransmitter secretion, glucose metabolic process, neurotransmitter catabolic process, glycerophospholipid metabolic process, short-chain fatty acid metabolic process, glutathione metabolic process, galactosylceramide metabolic process, glutamate metabolic process, mitochondrion, oxidoreductase activity, protein homodimerization activity, acetate metabolic process, succinate metabolic process, glucosylceramide metabolic process, glutamine metabolic process, succinate-semialdehyde dehydrogenase [NAD(P)+] activity,
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4 ACADS ENSG00000122971 0.4209506531384232 0.5678778376771237 0.8635266640531543 0.0 mitochondrial membrane, oxidoreductase activity, acting on the CH-CH group of donors, butyryl-CoA dehydrogenase activity, flavin adenine dinucleotide binding, fatty acid beta-oxidation, mitochondrion, mitochondrial matrix, oxidoreductase activity, protein homotetramerization, response to starvation, oxidation-reduction process, acyl-CoA dehydrogenase activity, fatty-acyl-CoA binding, metabolic process, fatty acid beta-oxidation using acyl-CoA dehydrogenase, response to glucocorticoid, small molecule metabolic process, cellular lipid metabolic process,
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5 TH ENSG00000180176 0.2053022329389097 0.3427751470992875 0.41829775317395956 0.0 isoquinoline alkaloid metabolic process, phytoalexin metabolic process, tetrahydrobiopterin binding, response to ethanol, response to water deprivation, eye photoreceptor cell development, sensory perception of sound, regulation of heart contraction, oxidation-reduction process, amino acid binding, dendrite, synaptic vesicle, heart morphogenesis, glycoside metabolic process, eating behavior, response to corticosterone, memory, response to peptide hormone, response to pyrethroid, iron ion binding, neurotransmitter biosynthetic process, cellular nitrogen compound metabolic process, response to amphetamine, small molecule metabolic process, response to nicotine, terpene metabolic process, fatty acid metabolic process, response to activity, synaptic transmission, dopaminergic, melanosome membrane, multicellular organismal aging, norepinephrine biosynthetic process, ferrous iron binding, response to zinc ion, visual perception, response to electrical stimulus, locomotory behavior, cellular response to growth factor stimulus, axon, response to ether, response to herbicide, anatomical structure morphogenesis, cellular response to alkaloid, cytoplasmic vesicle membrane, learning, embryonic camera-type eye morphogenesis, circadian sleep/wake cycle, epinephrine biosynthetic process, cellular response to drug, heart development, dopamine biosynthetic process, social behavior, cytoplasm, cellular response to nicotine, nucleus, catecholamine biosynthetic process, cytosol, monooxygenase activity, terminal bouton, mating behavior, protein binding, pigmentation, tyrosine 3-monooxygenase activity, cytoplasmic side of plasma membrane, response to light stimulus, neuronal cell body, oxygen binding, response to estradiol, cellular response to manganese ion, cytoplasmic vesicle, smooth endoplasmic reticulum, phthalate metabolic process, organ morphogenesis, ferric iron binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen, response to lipopolysaccharide, neuron projection, perikaryon, response to insecticide, response to organic cyclic compound, response to steroid hormone, mitochondrion, cognition, synaptic vesicle amine transport, sphingolipid metabolic process, response to hypoxia, response to salt stress, dopamine binding, response to metal ion, cerebral cortex development, response to growth factor, dopamine biosynthetic process from tyrosine, aromatic amino acid family metabolic process, response to drug, protein domain specific binding, cellular response to glucose stimulus, response to nutrient levels,
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6 PRODH2 ENSG00000100033 0.2480307981047407 0.4128756425993215 0.8638644833554514 0.0 proline catabolic process, FAD binding, mitochondrion, mitochondrial matrix, proline metabolic process, intrinsic apoptotic signaling pathway in response to oxidative stress, oxidation-reduction process, amino acid binding, proline dehydrogenase activity, proline catabolic process to glutamate, mitochondrial inner membrane, 4-hydroxyproline catabolic process, glutamate biosynthetic process, cellular nitrogen compound metabolic process, small molecule metabolic process,
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7 ACADM ENSG00000117054 0.24029292859665596 0.5474280664624633 0.6774029615981851 0.0 post-embryonic development, regulation of gluconeogenesis, flavin adenine dinucleotide binding, organic acid metabolic process, fatty acid beta-oxidation, mitochondrial matrix, oxidation-reduction process, acyl-CoA dehydrogenase activity, carnitine metabolic process, CoA-linked, metabolic process, fatty acid beta-oxidation using acyl-CoA dehydrogenase, liver development, small molecule metabolic process, cellular lipid metabolic process, oxidoreductase activity, acting on the CH-CH group of donors, medium-chain fatty acid catabolic process, response to cold, glycogen biosynthetic process, cardiac muscle cell differentiation, mitochondrion, medium-chain-acyl-CoA dehydrogenase activity, oxidoreductase activity, response to starvation, carnitine biosynthetic process, identical protein binding, axon, medium-chain fatty acid metabolic process, carnitine metabolic process, heart development,
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8 GLDC ENSG00000178445 0.4648762223614206 0.38086742682359764 0.6857526602768218 0.0 glycine catabolic process, glycine dehydrogenase (decarboxylating) activity, mitochondrion, electron carrier activity, lyase activity, cellular amino acid metabolic process, oxidation-reduction process, pyridoxal phosphate binding,
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9 CPS1 ENSG00000021826 0.22412717712655914 0.3607531775089714 0.6616349214541568 0.0 carbamoyl-phosphate synthase (ammonia) activity, cellular response to fibroblast growth factor stimulus, mitochondrial matrix, cellular response to glucagon stimulus, protein complex binding, glutamate binding, D-alanine-D-alanine ligase activity, cellular nitrogen compound metabolic process, liver development, small molecule metabolic process, response to cAMP, response to glucagon, nitric oxide metabolic process, response to toxic substance, endopeptidase activity, response to zinc ion, response to starvation, glutamine catabolic process, midgut development, ATP binding, response to amine, urea cycle, homocysteine metabolic process, modified amino acid binding, phospholipid binding, nitrogen compound metabolic process, positive regulation of vasodilation, citrulline biosynthetic process, anion homeostasis, cellular response to cAMP, cytoplasm, protein binding, metal ion binding, response to food, nucleolus, glycogen catabolic process, triglyceride catabolic process, cellular response to oleic acid, metabolic process, mitochondrial nucleoid, catalytic activity, response to oleic acid, response to glucocorticoid, response to lipopolysaccharide, carbamoyl phosphate biosynthetic process, hepatocyte differentiation, response to acid, response to steroid hormone, mitochondrion, protein complex, calcium ion binding, response to amino acid, mitochondrial inner membrane, response to growth hormone, response to drug, response to dexamethasone,
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10 LBP ENSG00000113790 0.2698550160241908 0.4870269893927963 0.6901349469592053 0.0 fatty acid metabolic process, cytoplasm, nucleus, cytosol, 3-hydroxyacyl-CoA dehydrogenase activity, fatty acid beta-oxidation, mitochondrion, oxidoreductase activity, oxidation-reduction process, peroxisome, receptor binding, metabolic process, internal protein amino acid acetylation, enoyl-CoA hydratase activity, intracellular membrane-bounded organelle, coenzyme binding, catalytic activity, enzyme binding, dodecenoyl-CoA delta-isomerase activity,
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