{"id":"W2754661657","doi":"10.1093/hmg/ddx356","title":"A mutation in IFT43 causes non-syndromic recessive retinal degeneration","year":2017,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":38,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University","funders":"National Cancer Institute; National Eye Institute","keywords":"Biology; Retinal degeneration; Retina; Exome sequencing; Cilium; Genetics; Retinal; Immunostaining; Retinitis pigmentosa; Mutation; Ciliopathies; Molecular biology; Gene; Immunohistochemistry; Phenotype; Immunology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001339863,0.0007261272,0.0002813913,0.000605505,0.0005447564,0.0002093872,0.0002234545,0.0005953427,0.003107829],"category_scores_gemma":[0.0005427416,0.0001866184,0.0002749423,0.0003271187,0.0002718253,0.0001618136,0.0002718382,0.0002576539,0.0004312297],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001694046,"about_ca_system_score_gemma":0.0001446453,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001196632,"about_ca_topic_score_gemma":0.001466678,"domain_scores_codex":[0.9998511,0.00002155181,0.00001939547,0.00004550213,0.00003691575,0.00002540941],"domain_scores_gemma":[0.9998313,0.0000501893,0.00005834533,0.00001360248,0.00001582313,0.00003059934],"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":[0.001058121,0.000252705,0.3115883,0.0002341918,0.000183479,0.2264597,0.001459732,0.0004253018,0.431278,0.0004528006,0.000876118,0.02573141],"study_design_scores_gemma":[0.00009870761,0.000824952,0.6616958,0.0000597868,0.0002004899,0.2995375,0.0007035157,0.001432286,0.02914829,0.000324615,0.005938896,0.0000350779],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988846,0.0002469298,0.0004485024,0.00003634401,0.000009938175,0.00000790464,0.00007235511,0.0000125165,0.0002810727],"genre_scores_gemma":[0.9984724,0.0002297641,0.000551429,0.00003848106,0.00001059714,0.000005576561,0.0001406783,0.000005292577,0.0005457698],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003107829,"threshold_uncertainty_score":0.01039666,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01314600854076444,"score_gpt":0.2893526491549293,"score_spread":0.2762066406141649,"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."}}