{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002459804,0.001028995,0.0004192191,0.0009116004,0.0004842577,0.000320857,0.0005884419,0.0004762345,0.001885926],"category_scores_gemma":[0.0009938939,0.0001938365,0.0002614913,0.0008776393,0.0004719963,0.0001381469,0.0004764848,0.0003560672,0.0004852361],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003682456,"about_ca_system_score_gemma":0.0002389015,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001557788,"about_ca_topic_score_gemma":0.001610255,"domain_scores_codex":[0.9997295,0.00003746347,0.00003693186,0.00008600527,0.000071234,0.00003879461],"domain_scores_gemma":[0.9994717,0.0001310509,0.0002296369,0.00002678524,0.00005498721,0.00008587076],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001682684,0.000270492,0.7700785,0.0002737042,0.0003966502,0.1081039,0.0009098449,0.00101107,0.09591644,0.0002594416,0.001718158,0.01937915],"study_design_scores_gemma":[0.0001802848,0.0004691362,0.852222,0.0000726206,0.0003697931,0.1289993,0.0003556484,0.001886511,0.01297389,0.0002589102,0.002186046,0.00002578111],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982507,0.0005568999,0.0004152092,0.00004981154,0.000008563194,0.00001789425,0.0002115192,0.00003305928,0.0004562461],"genre_scores_gemma":[0.9991617,0.0001212704,0.0003181033,0.0000387118,0.00001387689,0.000006087285,0.0001471297,0.000007140791,0.0001858927],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001885926,"threshold_uncertainty_score":0.006309032,"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."}}