{"id":"W1016955318","doi":"10.1167/iovs.15-17104","title":"Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population","year":2015,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":39,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital","funders":"National Eye Institute; Canadian Institutes of Health Research","keywords":"Genetics; Biology; Founder effect; Sanger sequencing; Retinitis pigmentosa; Locus heterogeneity; Missense mutation; Population; Mutation; Phenotype; Genetic heterogeneity; Genotype; Gene; Haplotype; Medicine","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0008044817,0.0008285153,0.0005015208,0.002664496,0.002308639,0.0006103922,0.0007486196,0.0005445093,0.003781216],"category_scores_gemma":[0.001759095,0.0001785416,0.0005536273,0.002182296,0.0007357151,0.0001504421,0.0004432969,0.000324387,0.0003259146],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.005790348,"about_ca_system_score_gemma":0.003950505,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.8649057,"about_ca_topic_score_gemma":0.8355891,"domain_scores_codex":[0.9991094,0.0001024729,0.00004754795,0.0002858697,0.000291689,0.0001629696],"domain_scores_gemma":[0.9992224,0.0001108452,0.0001314406,0.00004973437,0.0003646546,0.0001210058],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004170901,0.00007815672,0.9512104,0.0001320985,0.000267811,0.003636837,0.002248494,0.0005998238,0.01032871,0.0005823064,0.001435238,0.02906296],"study_design_scores_gemma":[0.00002779283,0.0001218696,0.9895161,0.00003569341,0.0001076599,0.003969217,0.0006166621,0.0004456337,0.0008212451,0.00006262435,0.004248692,0.00002686687],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9945081,0.001331226,0.0005906259,0.0001248865,0.000008937793,0.00005192204,0.001301736,0.00002515898,0.00205756],"genre_scores_gemma":[0.9969122,0.0005029993,0.0007587934,0.00007769632,0.000006793485,0.00002157113,0.0007475603,0.00001164348,0.0009606653],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1350943,"threshold_uncertainty_score":0.2717797,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05706543378770041,"score_gpt":0.3383337030264115,"score_spread":0.2812682692387111,"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."}}