{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004277001,0.0008518054,0.0004504888,0.001523141,0.0007922424,0.0007130312,0.0004386879,0.0009899952,0.002887897],"category_scores_gemma":[0.001043255,0.0001587285,0.0004341288,0.0007029638,0.0007541096,0.0002754962,0.0003970942,0.0008222958,0.00041724],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004495354,"about_ca_system_score_gemma":0.0003163898,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002486857,"about_ca_topic_score_gemma":0.003074835,"domain_scores_codex":[0.9995729,0.0000588072,0.00003894347,0.0001488189,0.000110916,0.00006956799],"domain_scores_gemma":[0.9996055,0.0001603075,0.0001048581,0.00002165454,0.00004403154,0.00006365201],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001544296,0.0002404468,0.5434101,0.0002009359,0.0002209622,0.05413152,0.001518827,0.0009028254,0.3390808,0.002616107,0.002380378,0.0537528],"study_design_scores_gemma":[0.0001332661,0.0008021701,0.7397695,0.0002308469,0.000799069,0.1043898,0.002756364,0.01216849,0.113848,0.008848233,0.01612995,0.0001243166],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947849,0.0005480382,0.002221569,0.0007077685,0.00003813296,0.00002015588,0.0006789396,0.00008801839,0.0009124615],"genre_scores_gemma":[0.9966523,0.0002175662,0.001976617,0.0002996403,0.0000324471,0.00001161845,0.0002814608,0.00003193771,0.0004963674],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002887897,"threshold_uncertainty_score":0.009661019,"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."}}