{"id":"W1977170771","doi":"10.1038/ng.2370","title":"Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis","year":2012,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":142,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children","funders":"","keywords":"Biology; Genetics; Missense mutation; Exome sequencing; Retinal degeneration; Nonsense mutation; Mutation; Compound heterozygosity; Retinitis pigmentosa; Exome; Gene","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001048878,0.0001366456,0.0001106804,0.00005780352,0.00006128747,0.0000187297,0.0001399348,0.0002957376,0.00004171465],"category_scores_gemma":[0.000124504,0.0001339429,0.0000777671,0.0001220289,0.00008905232,0.000006694894,0.00008309048,0.0001434752,0.00002172536],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001455703,"about_ca_system_score_gemma":0.00009971295,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009198886,"about_ca_topic_score_gemma":0.0000309428,"domain_scores_codex":[0.9991682,0.00002760049,0.0001928155,0.0001768412,0.0001856103,0.000248944],"domain_scores_gemma":[0.9994649,0.00001228394,0.0000805891,0.0002101297,0.0001469628,0.00008513513],"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":[0.00004948728,0.00007364418,0.1334374,0.00004420485,0.0002111798,0.000003736777,0.0007400535,0.00005737774,0.8611833,0.0002030827,0.003190675,0.0008058223],"study_design_scores_gemma":[0.0004225227,0.0001005181,0.07186155,0.00001227366,0.0000986896,0.00003481625,0.000703987,0.00001247561,0.9127054,0.0002698769,0.01345942,0.0003184986],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9886746,0.007362721,0.0001118109,0.00004875202,0.000395545,0.0001238133,0.00001891622,0.000009379478,0.003254509],"genre_scores_gemma":[0.996456,0.0003918889,0.001373518,0.0002032815,0.0001500406,0.00001060464,0.0001483635,0.00002082553,0.001245531],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06157589,"threshold_uncertainty_score":0.5462031,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01175151952932195,"score_gpt":0.2727102976817879,"score_spread":0.2609587781524659,"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."}}