{"id":"W2981708449","doi":"10.1101/817767","title":"Resolving the dark matter of <i>ABCA4</i> for 1,054 Stargardt disease probands through integrated genomics and transcriptomics","year":2019,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"European Regional Development Fund; Instituto de Salud Carlos III; Medical Research Council; Fundación Conchita Rábago; Vlaamse regering; Stichting tot Verbetering van het Lot der Blinden; Stichting Blindenhulp; Ministry of Health, State of Israel; Universiteit Gent; Fondazione Roma; Bundesministerium für Bildung und Forschung; British Heart Foundation; Ministero dell’Istruzione, dell’Università e della Ricerca; Stichting Steunfonds Uitzicht; Engineer Research and Development Center; Boehringer Ingelheim Fonds; Stichting Blinden-Penning; Univerzita Karlova v Praze; Landelijke Stichting voor Blinden en Slechtzienden; South African Medical Research Council; Fonds Wetenschappelijk Onderzoek","keywords":"Genetics; Biology; ABCA4; Gene; Exon; Intron; Coding region; Computational biology; Phenotype","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":[0.0003623459,0.0004245472,0.0003812712,0.00005319325,0.000114594,0.0001089402,0.0004644474,0.0003394543,0.000006066111],"category_scores_gemma":[0.00009429004,0.0003534128,0.0001757359,0.0001056413,0.0001881426,0.00001096993,0.0002891376,0.0002643057,0.000003572319],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004403559,"about_ca_system_score_gemma":0.0006744612,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001747232,"about_ca_topic_score_gemma":0.000002843248,"domain_scores_codex":[0.9982216,0.0000731774,0.0004446959,0.0007351749,0.000159517,0.0003658218],"domain_scores_gemma":[0.9984293,0.00002751486,0.0002897741,0.0008279477,0.0003145383,0.0001109293],"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":[0.0006985533,0.00008995747,0.03690625,0.001151495,0.0003039435,0.000002197069,0.00004978802,0.0001224873,0.9528466,0.0002113593,0.0076144,0.000002945783],"study_design_scores_gemma":[0.003292344,0.0003163717,0.1144607,0.0008194023,0.0006746581,5.077015e-8,0.00006855513,0.0005589274,0.6891233,0.0001159491,0.1882422,0.002327583],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9844102,0.004186901,0.008170872,0.0004853235,0.000507466,0.001507107,0.0006635212,0.00002815623,0.00004041941],"genre_scores_gemma":[0.9918852,0.001485859,0.00558919,0.0005814733,0.000124573,0.0001851383,0.00001296394,0.0001061242,0.00002944585],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2637233,"threshold_uncertainty_score":0.9998918,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008866112210298836,"score_gpt":0.205679292319466,"score_spread":0.1968131801091672,"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."}}