{"id":"W2150519492","doi":"10.1093/hmg/ddt661","title":"Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina","year":2013,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Calpain Protease Function and Regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":37,"is_retracted":false,"has_abstract":true,"ca_institutions":"Columbia College","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Cancer Institute; National Eye Institute","keywords":"Biology; Retinal degeneration; Retinitis pigmentosa; Electroretinography; Haploinsufficiency; Retina; Retinal; Molecular biology; Genetics; Phenotype; Gene","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":[0.0006891054,0.0005099163,0.0002389494,0.0004421299,0.0003091897,0.0004727726,0.000447786,0.0006850969,0.002088029],"category_scores_gemma":[0.0005244136,0.0001881114,0.0004825553,0.0002412172,0.0003491084,0.000237725,0.0003163675,0.0006271991,0.0006845882],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005397175,"about_ca_system_score_gemma":0.0002115487,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001118055,"about_ca_topic_score_gemma":0.001309818,"domain_scores_codex":[0.999579,0.00007702219,0.00006887697,0.0001029283,0.0001186371,0.00005351493],"domain_scores_gemma":[0.9997203,0.00006681735,0.00007116985,0.00005351407,0.00004448296,0.00004377369],"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":[0.0001231503,0.00006638419,0.0002675094,0.00004398745,0.00001920422,0.0002794103,0.00003920617,0.0001562163,0.997102,0.0002876262,0.00008434239,0.001530939],"study_design_scores_gemma":[0.00005017513,0.0003981818,0.006373283,0.00001908694,0.00006509724,0.001620894,0.00004859627,0.004161298,0.9806968,0.0001095054,0.006444256,0.0000128584],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9688913,0.0008330864,0.02299531,0.0002444474,0.0001310275,0.0003125394,0.003988951,0.000203101,0.002400181],"genre_scores_gemma":[0.9761345,0.0005690753,0.0126659,0.0001517831,0.00001648198,0.0002246573,0.005749572,0.00009541716,0.004392642],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002088029,"threshold_uncertainty_score":0.006985188,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009437076112392253,"score_gpt":0.2265713835128586,"score_spread":0.2171343074004664,"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."}}