{"id":"W7058422657","doi":"","title":"Molecular genetic basis of non-syndromic retinal dystrophies","year":2013,"lang":"en","type":"other","venue":"Radboud Repository (Radboud University)","topic":"Magnetic confinement fusion research","field":"Physics and Astronomy","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Canadian Institutes of Health Research; National Institutes of Health; Vlaamse regering; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Stichting Wetenschappelijk Onderzoek Oogziekenhuis; Landelijke Stichting voor Blinden en Slechtzienden; Algemene Nederlandse Vereniging ter voorkoming van Blindheid; Oogfonds; Radboud Universiteit; Fonds Wetenschappelijk Onderzoek; Ministero della Salute; Instituto de Salud Carlos III; ZonMw","keywords":"Retinitis pigmentosa; Frameshift mutation; Disease gene identification; Allele; Exome sequencing; Retinal Disorder; Nonsense mutation; Retinal; Retinal degeneration","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001282428,0.0002813648,0.0001638175,0.0006097671,0.0001300437,0.0002909523,0.0002067956,0.0002005902,0.001745602],"category_scores_gemma":[0.0001535898,0.00009163064,0.0001585393,0.0001875653,0.0002587415,0.0001351861,0.0001725865,0.0001649066,0.0002120385],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002764326,"about_ca_system_score_gemma":0.0002277793,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005346618,"about_ca_topic_score_gemma":0.001004238,"domain_scores_codex":[0.9999028,0.00001054591,0.00001488282,0.00002593569,0.00003125098,0.00001448931],"domain_scores_gemma":[0.9999379,0.0000181335,0.00002243457,0.000005104238,0.000009921801,0.000006555872],"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":[0.0005020684,0.00009262092,0.04809749,0.0007862435,0.00011296,0.02042731,0.0005271745,0.001356539,0.8428264,0.01796055,0.002176162,0.06513456],"study_design_scores_gemma":[0.0001437309,0.0007543077,0.4365883,0.0002751219,0.0003291692,0.07239881,0.0006464907,0.004419458,0.4388723,0.009382144,0.03614333,0.000046921],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.980182,0.009881598,0.002156287,0.000317611,0.00005261607,0.00003363032,0.0006575206,0.00007511481,0.006643691],"genre_scores_gemma":[0.9861817,0.006058943,0.002190697,0.00007283397,0.00002811872,0.00001833766,0.0003528729,0.00001284943,0.005083649],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001745602,"threshold_uncertainty_score":0.005839646,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003422949680703948,"score_gpt":0.1787961153987978,"score_spread":0.1753731657180938,"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."}}