{"id":"W4385331496","doi":"10.1159/000531770","title":"Prioritization of Monogenic Congenital Anomalies of the Kidney and Urinary Tract Candidate Genes with Existing Single-Cell Transcriptomics Data of the Human Fetal Kidney","year":2023,"lang":"en","type":"article","venue":"˜The œNephron journals/Nephron journals","topic":"Renal and related cancers","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Human Genome Research Institute; National Institute of General Medical Sciences; Academic Medical Organization of Southwestern Ontario; Schulich School of Medicine and Dentistry; Yale University; National Institutes of Health; ACMG Foundation for Genetic and Genomic Medicine","keywords":"Candidate gene; Kidney development; Biology; Gene; Transcriptome; Genetics; Bioinformatics; Gene expression","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008584014,0.0002871356,0.0003898922,0.0001050891,0.0004430694,0.00007030166,0.0009915617,0.0001905114,0.00003245168],"category_scores_gemma":[0.00007089059,0.0001536504,0.0002327341,0.0004393893,0.0005994037,0.00004827503,0.0002789244,0.0004082917,5.677862e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003296644,"about_ca_system_score_gemma":0.0004952761,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006096181,"about_ca_topic_score_gemma":0.00004351073,"domain_scores_codex":[0.9976187,0.0003389904,0.0008725213,0.0003201136,0.0004930238,0.0003567025],"domain_scores_gemma":[0.9975805,0.00003962724,0.001157372,0.0007571724,0.0002615676,0.0002038087],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001760267,0.000149714,0.01119982,0.0001342567,0.0004298877,0.000008268975,0.0004525963,0.000496781,0.9839956,0.000004960519,0.001517069,0.001435077],"study_design_scores_gemma":[0.004475831,0.001410205,0.03505837,0.001455585,0.001163152,0.002194969,0.001978565,0.0009096888,0.9328946,0.000229736,0.01757776,0.000651541],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9884871,0.009263631,0.0001516306,0.0008404015,0.0002610495,0.0003264927,0.0003696818,0.000007584737,0.0002924309],"genre_scores_gemma":[0.9938929,0.004935022,0.0000907684,0.0002225753,0.0002445287,0.000004291689,0.00005872207,0.00004656972,0.0005045998],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05110094,"threshold_uncertainty_score":0.626568,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03478056406211894,"score_gpt":0.2739815957323469,"score_spread":0.2392010316702279,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}