{"id":"W2150467649","doi":"10.1111/j.1442-9071.2007.01534.x","title":"Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions","year":2007,"lang":"en","type":"review","venue":"Clinical and Experimental Ophthalmology","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":126,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University Health Centre","funders":"Foundation Fighting Blindness","keywords":"Retinitis pigmentosa; Stargardt disease; Genetic testing; Genotyping; Medicine; Genetics; ABCA4; Bioinformatics; Genetic heterogeneity; Disease; Retinal; Gene; Genotype; Biology; Ophthalmology; Phenotype; Pathology","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":[0.03345279,0.002156087,0.002401002,0.00333465,0.001660101,0.004583686,0.002961505,0.01301871,0.008275992],"category_scores_gemma":[0.05329669,0.0007274619,0.001538845,0.0014355,0.008329596,0.01130918,0.004197683,0.0123431,0.002584676],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002534128,"about_ca_system_score_gemma":0.003976026,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002626228,"about_ca_topic_score_gemma":0.003041728,"domain_scores_codex":[0.986161,0.006589194,0.001464839,0.00101127,0.004241223,0.0005325807],"domain_scores_gemma":[0.9339392,0.04498223,0.003006375,0.002661541,0.01112043,0.004290271],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000728696,0.0002657833,0.005577244,0.002778871,0.0003978211,0.003338809,0.0004958964,0.001259245,0.001579213,0.04695183,0.1760721,0.7605544],"study_design_scores_gemma":[0.0004392934,0.0009198234,0.009785707,0.01654212,0.0006552591,0.01905042,0.005023069,0.003407697,0.0009623991,0.4683396,0.4743116,0.0005630326],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"review","genre_scores_codex":[0.002387461,0.2784488,0.006664372,0.7008209,0.005109459,0.00002756485,0.0001487491,0.0001970696,0.006195663],"genre_scores_gemma":[0.1063978,0.5751578,0.04180352,0.2062423,0.05735539,0.000217811,0.0004487895,0.000252902,0.01212362],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.03345279,"threshold_uncertainty_score":0.1769174,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1846402526782245,"score_gpt":0.4168395136570565,"score_spread":0.232199260978832,"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."}}