{"id":"W2511959561","doi":"10.1002/ajmg.a.37929","title":"Phenotypic evolution of UNC80 loss of function","year":2016,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"Child and Family Research Institute; University of British Columbia","funders":"National Human Genome Research Institute; Common Fund; National Institutes of Health; Child and Family Research Institute","keywords":"Failure to thrive; Loss function; Exome sequencing; Nonsense; Genetics; Phenotype; Gain of function; Biology; Nonsense mutation; Hereditary spastic paraplegia; Mutation; Gene; Missense mutation","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":[0.0005370267,0.0001056069,0.0003515175,0.0001070267,0.00002228279,0.000002642455,0.0004532111,0.00006795452,0.0004744323],"category_scores_gemma":[0.002746746,0.0000646375,0.0001286365,0.0003819309,0.001389814,0.000056923,0.0000661387,0.0002004399,0.00001569962],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002748735,"about_ca_system_score_gemma":0.0002352646,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008080294,"about_ca_topic_score_gemma":0.000002618171,"domain_scores_codex":[0.9971973,0.0003490407,0.0007045266,0.0001698651,0.00135437,0.0002249448],"domain_scores_gemma":[0.9980893,0.0006095394,0.0007069325,0.0001873255,0.0001351482,0.0002717337],"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":[0.001314938,0.0009160389,0.04030874,0.00004451418,0.00006973097,0.0001247948,0.0002081117,0.0002586707,0.4769414,0.002489635,0.002876541,0.4744469],"study_design_scores_gemma":[0.01516612,0.07283687,0.4322082,0.001556176,0.000666816,0.001448663,0.001352199,0.002443419,0.3170705,0.04600553,0.107652,0.001593441],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9797696,0.0002076046,0.01671314,0.002509306,0.0005333798,0.00005539758,0.000007779886,0.000007391757,0.0001963515],"genre_scores_gemma":[0.9985061,0.0007019757,0.0001574881,0.0004470296,0.0001570969,9.98431e-7,1.096975e-7,0.00001040983,0.0000187799],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4728535,"threshold_uncertainty_score":0.5194701,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02148998606653406,"score_gpt":0.2665032840377287,"score_spread":0.2450132979711946,"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."}}