{"id":"W4416431028","doi":"10.1136/jmg-2025-110940","title":"Advancing genotype-phenotype analysis through 3D facial morphometry: insights from Cri-du-Chat syndrome","year":2025,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; Alberta Bone and Joint Health Institute; University of Calgary","funders":"National Institute of Justice; National Institute of Dental and Craniofacial Research; National Human Genome Research Institute","keywords":"Complement (music); Face (sociological concept); Interpretation (philosophy); Active appearance model; MEDLINE","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002686718,0.0001831388,0.0004213527,0.000186034,0.0001147126,0.0000468496,0.0005094296,0.0003212345,0.0004264657],"category_scores_gemma":[0.0002964277,0.0001547111,0.000265806,0.0004551457,0.00009384604,0.000009058744,0.0002107724,0.0002539839,0.000008463415],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004485495,"about_ca_system_score_gemma":0.0004407789,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007765944,"about_ca_topic_score_gemma":0.0001073803,"domain_scores_codex":[0.9981434,0.0001032602,0.0006646744,0.0002293114,0.0006191097,0.0002402745],"domain_scores_gemma":[0.9989515,0.00005072918,0.0002793752,0.0002913062,0.0002456421,0.0001814749],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.002063226,0.003853033,0.3738309,0.0005640811,0.04868777,0.002734289,0.008477324,0.06732628,0.354569,0.005978185,0.04617625,0.08573969],"study_design_scores_gemma":[0.006752356,0.002298605,0.1684074,0.0003243103,0.00639291,0.0004720051,0.003444256,0.006101142,0.07504684,0.008019405,0.7211721,0.001568747],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9415445,0.008237275,0.04804398,0.0007904803,0.0008067018,0.00005839857,0.00002783982,0.000005107003,0.0004857436],"genre_scores_gemma":[0.9871827,0.002824873,0.008213988,0.0009123863,0.0006058382,0.000001946954,0.00005778924,0.00001398187,0.0001865467],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6749958,"threshold_uncertainty_score":0.6308936,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005827859381241621,"score_gpt":0.2468839981103294,"score_spread":0.2410561387290878,"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."}}