{"id":"W3081706340","doi":"10.1101/2020.08.28.272914","title":"Pathogenic Mechanisms Underlying Stargardt Macular Degeneration Linked to Mutations in the Transmembrane Domains of ABCA4","year":2020,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"National Institutes of Health","keywords":"ABCA4; Stargardt disease; Missense mutation; Transmembrane domain; Transmembrane protein; Cell biology; Biology; ATP-binding cassette transporter; Mutation; Biochemistry; Genetics; Chemistry; Retinal; Transporter; Amino acid; Phenotype; 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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0004781407,0.0003382535,0.0003141864,0.0001390863,0.00009715657,0.00007484521,0.0004966347,0.0003537813,0.00001076186],"category_scores_gemma":[0.000118787,0.0003202995,0.0001603194,0.0003838367,0.000048206,0.000006727493,0.0001486095,0.0002837669,0.000009089849],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004300057,"about_ca_system_score_gemma":0.0004473821,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002092279,"about_ca_topic_score_gemma":0.00002192773,"domain_scores_codex":[0.9980423,0.0001910404,0.0004861731,0.0006608032,0.0003174451,0.0003022031],"domain_scores_gemma":[0.9989358,0.00001882425,0.0001843897,0.0005793168,0.000182251,0.00009947061],"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":[0.0000517693,0.00006064613,0.0002968989,0.0001461927,0.00007021007,0.0000143589,0.00006965164,0.0007366279,0.9976738,0.0008366846,0.00003926259,0.000003887978],"study_design_scores_gemma":[0.001088347,0.0002441505,0.07415794,0.0001712297,0.0001576429,4.51665e-8,0.00007746912,0.0003365903,0.9206313,0.00009354917,0.002155796,0.0008859406],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9436933,0.0006333041,0.05363259,0.000713263,0.0002034399,0.0009628016,0.0001164606,0.00003083502,0.00001397812],"genre_scores_gemma":[0.9873338,0.0002201174,0.01155072,0.0005446958,0.00005786559,0.0002195375,0.00001271095,0.00005865056,0.000001906409],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07704251,"threshold_uncertainty_score":0.9999249,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01976355457961807,"score_gpt":0.2395002770145429,"score_spread":0.2197367224349248,"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."}}