{"id":"W7135481637","doi":"","title":"A splice-site variant in the lncRNA gene <i>RP1-140A9.1</i> cosegregates in the large Volkmann cataract family","year":2019,"lang":"en","type":"article","venue":"Research at the University of Copenhagen (University of Copenhagen)","topic":"Connexins and lens biology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Glycomics Centre","funders":"Medical Research Council; Danish Eye Research Foundation; Sundhed og Sygdom, Det Frie Forskningsråd; Danmarks Grundforskningsfond; National Research Foundation; Innovationsfonden","keywords":"Gene; Locus (genetics); Candidate gene; Sanger sequencing; Intron; Single-nucleotide polymorphism; Genetic linkage; Exon","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":[0.0002395281,0.001337368,0.0006511246,0.001694287,0.0007945187,0.0003622524,0.0005410747,0.0009214762,0.005890516],"category_scores_gemma":[0.0008352725,0.0003040006,0.0006485883,0.001203714,0.000756529,0.0001840845,0.0004394965,0.0005786069,0.0007260782],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003364479,"about_ca_system_score_gemma":0.0002754863,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001482058,"about_ca_topic_score_gemma":0.001580462,"domain_scores_codex":[0.9993925,0.00006390172,0.00005230469,0.000313318,0.0001288488,0.0000490477],"domain_scores_gemma":[0.9993802,0.0001482763,0.0002889566,0.00003978001,0.00002669967,0.0001161076],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.004378289,0.0003429599,0.2396123,0.0004801417,0.0007424724,0.1945639,0.001361453,0.001555532,0.5110851,0.002694542,0.003864058,0.0393194],"study_design_scores_gemma":[0.0002743847,0.000813622,0.6190487,0.0001871275,0.0007555885,0.3147132,0.0004838666,0.004116172,0.04845962,0.00219915,0.008814282,0.0001341688],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947018,0.000574049,0.002120433,0.0002412854,0.0001010759,0.00003792625,0.0008572387,0.0001452484,0.001220832],"genre_scores_gemma":[0.9968328,0.000152356,0.001546229,0.00009103805,0.00006921888,0.00002205673,0.0003208447,0.00003986807,0.0009256725],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005890516,"threshold_uncertainty_score":0.01970577,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01963442642617119,"score_gpt":0.2523292393799694,"score_spread":0.2326948129537982,"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."}}