{"id":"W4392245243","doi":"10.1016/j.gim.2024.101106","title":"Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Ubiquitin and proteasome pathways","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Children's Hospital","funders":"National Eye Institute; Stichting tot Verbetering van het Lot der Blinden; National Institutes of Health; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Stichting Blindenhulp; Stichting Blinden-Penning; Landelijke Stichting voor Blinden en Slechtzienden; Algemene Nederlandse Vereniging ter voorkoming van Blindheid; Oogfonds; European Commission; Canadian Institutes of Health Research; National Science Foundation; Children's Hospital Foundation; Research to Prevent Blindness","keywords":"Blindness; Genetics; Retinal degeneration; Loss function; Disease; Identification (biology); Biology; Gene; Heritability; Retinal; Missing heritability problem; Function (biology); Medicine; Genetic variants; Phenotype; Genotype; Pathology; Optometry","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0004524344,0.0001299851,0.0001638523,0.0001533454,0.00002004746,0.000008851812,0.0001132848,0.0001751275,0.00008812218],"category_scores_gemma":[0.000145253,0.0001172918,0.00002674815,0.000259311,0.000101981,0.000003437958,0.00005173742,0.0001621189,0.000007192185],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002432214,"about_ca_system_score_gemma":0.0001088967,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003435837,"about_ca_topic_score_gemma":0.0002036983,"domain_scores_codex":[0.9988533,0.0001007895,0.0003526784,0.0003293754,0.0001725376,0.0001912943],"domain_scores_gemma":[0.9995931,0.00002190426,0.0000552742,0.0002256258,0.00005550079,0.00004852772],"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":[0.000141899,0.00004367782,0.01571362,0.0001423531,0.00002524589,0.00006031149,0.0004361305,0.0003692752,0.9722649,0.001005461,0.0007397378,0.009057309],"study_design_scores_gemma":[0.002176678,0.002183215,0.04527626,0.0009461556,0.00007888983,0.00008393021,0.000256486,0.004347537,0.9212199,0.002641059,0.02035649,0.0004333183],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9852144,0.008276414,0.003290209,0.0003653152,0.0007200819,0.0002152449,0.00001141025,0.00001164474,0.001895267],"genre_scores_gemma":[0.9964221,0.001402947,0.0008810231,0.0001352526,0.0006570292,0.0000279844,0.0001395639,0.00001965192,0.0003144616],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.051045,"threshold_uncertainty_score":0.4783021,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02475172533723707,"score_gpt":0.2964092793256728,"score_spread":0.2716575539884358,"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."}}