{"id":"W3157037085","doi":"10.1002/ajmg.a.62240","title":"Fifty years of recognizable patterns of human malformation: Insights and opportunities","year":2021,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"Congenital Ear and Nasal Anomalies","field":"Medicine","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"","keywords":"Etiology; Exome sequencing; Genetic heterogeneity; Biology; Congenital malformations; Genetics; Evolutionary biology; Bioinformatics; Medicine; Pathology; Gene; Mutation; Pregnancy; Phenotype","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":[0.0007457663,0.000796053,0.001073411,0.003915073,0.0003277605,0.001134601,0.0006946791,0.001033464,0.004412849],"category_scores_gemma":[0.001826671,0.0002815274,0.0004725016,0.003649675,0.001025678,0.002955763,0.0008484154,0.001747323,0.001863915],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007817537,"about_ca_system_score_gemma":0.001272259,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001152867,"about_ca_topic_score_gemma":0.001728055,"domain_scores_codex":[0.9997135,0.00005212377,0.00006115579,0.00005792052,0.00009246295,0.00002285456],"domain_scores_gemma":[0.9988899,0.0006376235,0.0001158568,0.00004738533,0.0002363336,0.00007291951],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00006717088,0.00003873969,0.0004300287,0.009499295,0.00006243228,0.0004536186,0.0001988119,0.0002605071,0.001146547,0.007347672,0.08032317,0.9001721],"study_design_scores_gemma":[0.000005443307,0.00003226737,0.001009938,0.002732458,0.00004557729,0.002604191,0.0001013078,0.00003844367,0.0001857637,0.002180399,0.9910439,0.00002025553],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001210273,0.9970238,0.0001704683,0.0009043167,0.0005849188,0.00000302853,0.00002992026,0.0000132192,0.001149429],"genre_scores_gemma":[0.0007714755,0.9967697,0.0002683359,0.0006620644,0.0007097777,0.000004290133,0.00005912201,0.000003989668,0.0007512994],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.004412849,"threshold_uncertainty_score":0.01476246,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09649186509034217,"score_gpt":0.3568654781389624,"score_spread":0.2603736130486202,"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."}}