{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002506172,0.001151875,0.0004060788,0.001498035,0.0007568456,0.000649862,0.0005534376,0.002140248,0.002635821],"category_scores_gemma":[0.001506989,0.0002671772,0.000409273,0.0005684925,0.0005498221,0.0004191282,0.0005701866,0.0006642207,0.0004959035],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005375064,"about_ca_system_score_gemma":0.0002602053,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001609405,"about_ca_topic_score_gemma":0.001911138,"domain_scores_codex":[0.9996904,0.00002685032,0.00004210565,0.00009306538,0.00009284837,0.0000547655],"domain_scores_gemma":[0.9992746,0.0003732707,0.0001217908,0.00002985574,0.00005863175,0.0001419754],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0007121391,0.00009744231,0.04936168,0.0001139287,0.000073362,0.7356393,0.0006016935,0.001088133,0.1973095,0.001374808,0.001664608,0.0119635],"study_design_scores_gemma":[0.00008226577,0.000249644,0.149214,0.00007186202,0.0002108725,0.7684676,0.0004064156,0.00645988,0.0689273,0.001883085,0.003956309,0.00007066772],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9945373,0.0003929033,0.00105804,0.0006823022,0.00007657912,0.0000157428,0.0005006422,0.00009440238,0.002642042],"genre_scores_gemma":[0.9982375,0.0001170676,0.0007450114,0.000106311,0.00003872866,0.000004530546,0.0001370508,0.00001899554,0.0005948637],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002635821,"threshold_uncertainty_score":0.008817673,"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."}}