{"id":"W2054234739","doi":"10.3109/13816810.2013.763993","title":"Molecular Genetics of Achromatopsia in Newfoundland Reveal Genetic Heterogeneity, Founder Effects and the First Cases of Jalili Syndrome in North America","year":2013,"lang":"en","type":"article","venue":"Ophthalmic Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University and Génome Québec Innovation Centre; McGill University; Memorial University of Newfoundland","funders":"CNIB; Génome Québec; Baker Foundation; McGill University","keywords":"Achromatopsia; Founder effect; Photophobia; Genetics; Exome sequencing; Haplotype; Population; Exome; Biology; Genetic heterogeneity; Allele; Medicine; Mutation; Gene; Ophthalmology; Retinal","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":[0.0001658027,0.0003423357,0.0002469175,0.001248599,0.001453902,0.0005115379,0.0004231945,0.0002865815,0.001531983],"category_scores_gemma":[0.0008547148,0.0002526934,0.0002156001,0.0009749886,0.0006484104,0.0001880036,0.0005844644,0.000333941,0.0001877049],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003353116,"about_ca_system_score_gemma":0.001881868,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.6158026,"about_ca_topic_score_gemma":0.8009416,"domain_scores_codex":[0.9997221,0.00002101138,0.00002165558,0.00006731341,0.00004859559,0.0001192737],"domain_scores_gemma":[0.9995872,0.00006928508,0.0001150673,0.00002850124,0.00008996708,0.0001099082],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002017459,0.00006244476,0.943155,0.00003665568,0.00007719978,0.02062002,0.002591112,0.0001885334,0.01218255,0.0001894661,0.0013355,0.01935982],"study_design_scores_gemma":[0.000008818993,0.00002551456,0.9887649,0.00001757372,0.00003619989,0.008864421,0.0006214068,0.00008374196,0.0004169231,0.0000244891,0.001127072,0.000008965837],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981403,0.0003344267,0.0000813614,0.0001119103,0.000003622166,0.000006283144,0.0002152158,0.000007667832,0.00109918],"genre_scores_gemma":[0.9983299,0.0002919229,0.0002010076,0.0000758606,0.000005040932,0.000004806899,0.0002859678,0.000005339224,0.0008000535],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3841974,"threshold_uncertainty_score":0.7729199,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006462462209304709,"score_gpt":0.2249820181103807,"score_spread":0.2185195559010759,"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."}}