{"id":"W3016532672","doi":"10.1038/s41436-020-0787-4","title":"Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics","year":2020,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":142,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta","funders":"Engineer Research and Development Center; Bundesministerium für Bildung und Forschung; European Regional Development Fund; Landelijke Stichting voor Blinden en Slechtzienden; Instituto de Salud Carlos III; Stichting Blindenhulp; Medical Research Council; Fundación Conchita Rábago; Foundation Fighting Blindness; Vlaamse regering; Stichting tot Verbetering van het Lot der Blinden; Fondazione Roma; Univerzita Karlova v Praze; South African Medical Research Council; University of Washington; Ministero dell’Istruzione, dell’Università e della Ricerca; Medical Research Charities Group; Boehringer Ingelheim Fonds; Stichting Steunfonds Uitzicht; Fonds Wetenschappelijk Onderzoek; Stichting Blinden-Penning; Algemene Nederlandse Vereniging ter voorkoming van Blindheid; Universiteit Gent; Ministry of Health, State of Israel","keywords":"ABCA4; Stargardt disease; Proband; Genomics; Genetics; Disease; Biology; Computational biology; Medicine; Mutation; Genome; Internal medicine; 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":[0.0001692601,0.0001256489,0.0001643635,0.00001794993,0.00003773791,0.000007098945,0.0001674607,0.00005989135,0.00001102808],"category_scores_gemma":[0.0001106088,0.00008725379,0.00003208302,0.00008295135,0.000197487,0.00000194815,0.00004673259,0.00007300368,4.963604e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006823893,"about_ca_system_score_gemma":0.00007536199,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008175646,"about_ca_topic_score_gemma":0.00001628352,"domain_scores_codex":[0.9992139,0.00003003216,0.0002688758,0.0002350602,0.00009333379,0.0001587936],"domain_scores_gemma":[0.9996352,0.0000204687,0.00006068587,0.0001574278,0.0000580652,0.00006818036],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00328911,0.0001007582,0.1830329,0.0008803439,0.0001901102,0.000007146251,0.01014552,0.0005516419,0.719359,0.0004372252,0.07589418,0.006112034],"study_design_scores_gemma":[0.01542282,0.003245276,0.1456145,0.000523075,0.0005005337,0.00001136489,0.00903483,0.005649461,0.113453,0.01531086,0.6897388,0.001495511],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.970006,0.007749812,0.0117426,0.009035536,0.0001021137,0.0005664834,0.00003328824,0.000004519493,0.00075965],"genre_scores_gemma":[0.9883801,0.003209426,0.004951904,0.003045917,0.0001191144,0.00002784358,0.000164846,0.00002307005,0.00007772708],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6138446,"threshold_uncertainty_score":0.3558106,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01976098941244004,"score_gpt":0.2587689039909057,"score_spread":0.2390079145784657,"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."}}