{"id":"W4386629989","doi":"10.1016/j.xhgg.2023.100237","title":"Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability","year":2023,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Eye Institute; Stichting tot Verbetering van het Lot der Blinden; Rotterdamse Stichting Blindenbelangen; Stichting Blinden-Penning; Landelijke Stichting voor Blinden en Slechtzienden; Gelderse Blinden Stichting; Horizon 2020; Oogfonds; Pro Retina-Stiftung; Israel Science Foundation; Retina UK; Stichting voor Ooglijders; Stichting Steunfonds Uitzicht; National Institutes of Health; Stichting Blindenhulp; Foundation Fighting Blindness; Grantová Agentura, Univerzita Karlova; H2020 Marie Skłodowska-Curie Actions; Research to Prevent Blindness","keywords":"ABCA4; Genetics; Biology; Sanger sequencing; Allele; splice; Proband; Stargardt disease; Gene; Compound heterozygosity; DNA sequencing; Phenotype; Mutation","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009989181,0.0006399949,0.0006101974,0.001114042,0.0002605851,0.0005106284,0.0002861556,0.0003996245,0.00104863],"category_scores_gemma":[0.002100798,0.0002566462,0.0003781255,0.0007548684,0.0003978587,0.0002310414,0.0003764317,0.0005113032,0.0003265413],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001783058,"about_ca_system_score_gemma":0.0001511993,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001175207,"about_ca_topic_score_gemma":0.001449681,"domain_scores_codex":[0.998867,0.0003309126,0.0001334363,0.0003536817,0.0002309735,0.00008388919],"domain_scores_gemma":[0.9987802,0.0006097704,0.0002687656,0.000179607,0.00009938998,0.00006228582],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.000488183,0.00007610054,0.4782879,0.0002129367,0.0004006759,0.005001297,0.0008197044,0.001650744,0.4556677,0.001025082,0.0004474742,0.05592217],"study_design_scores_gemma":[0.0000612264,0.0005268775,0.8659377,0.00008479749,0.000587055,0.01542545,0.0005373023,0.00579329,0.1020359,0.002288483,0.006671818,0.00005018549],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9895841,0.001424284,0.007712299,0.000137161,0.0000155952,0.0000132025,0.0004880274,0.00006275534,0.0005625452],"genre_scores_gemma":[0.9937365,0.000981256,0.004207311,0.0001114568,0.00003110242,0.00001400987,0.0006011107,0.00003407288,0.000283111],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001175207,"threshold_uncertainty_score":0.005282819,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01165297945537174,"score_gpt":0.2491531199405535,"score_spread":0.2375001404851817,"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."}}