{"id":"W4324116640","doi":"10.1016/j.gimo.2023.100266","title":"P238: Discovery of the phenotypic landscape and mechanistic understanding of NAA10-related and NAA15-related neurodevelopmental syndromes, using mouse models and iPSCs*","year":2023,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Peptidase Inhibition and Analysis","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Princess Margaret Cancer Centre; University of Toronto; University Health Network","funders":"","keywords":"Biology; Neuroscience; Computational biology; Phenotype; Induced pluripotent stem cell; Evolutionary biology; Genetics; Gene; Embryonic stem cell","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":[0.0004037409,0.0009692934,0.0003390843,0.0007623299,0.0003153299,0.0007999433,0.0007069494,0.0009513616,0.002846203],"category_scores_gemma":[0.0003160245,0.0001788913,0.0004503922,0.0002945423,0.0009805219,0.0005568946,0.0006072776,0.001904749,0.0008174961],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004047063,"about_ca_system_score_gemma":0.0004632571,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005548637,"about_ca_topic_score_gemma":0.0008494739,"domain_scores_codex":[0.9997773,0.00002509625,0.0000210474,0.00006370916,0.00008481374,0.00002803812],"domain_scores_gemma":[0.9997125,0.00006987128,0.0000800733,0.00003108908,0.00002487015,0.00008151869],"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":[0.0002970885,0.00004547851,0.0008701964,0.0001182172,0.00003275913,0.002164351,0.00004137857,0.0004356024,0.9772072,0.006058163,0.0007290865,0.01200047],"study_design_scores_gemma":[0.00009367966,0.0003647848,0.006361344,0.00007268583,0.0000829936,0.009036936,0.0001386069,0.003925945,0.9422902,0.004794862,0.03280823,0.00002965749],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8713298,0.009734463,0.08490645,0.005895993,0.0006193563,0.0001970199,0.005891148,0.001451338,0.0199744],"genre_scores_gemma":[0.9513175,0.007014869,0.02763744,0.0006267836,0.0001309373,0.0001395539,0.002020708,0.0003441875,0.01076791],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002846203,"threshold_uncertainty_score":0.009521544,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09625624727970238,"score_gpt":0.3160798005043164,"score_spread":0.2198235532246141,"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."}}