{"id":"W4413440381","doi":"10.1111/cge.70048","title":"Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes","year":2025,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Congenital limb and hand anomalies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research","keywords":"Gene; Candidate gene; Genetics; Yield (engineering); Biology; Phenotype; Computational biology; Medicine; Bioinformatics","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001178954,0.0002035597,0.0002611495,0.001788217,0.0002975968,0.0007565594,0.0002887116,0.0003038525,0.001624244],"category_scores_gemma":[0.004824634,0.0001259853,0.0002674239,0.001371946,0.0003290711,0.0005937169,0.0005732357,0.0002641258,0.0003734544],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002760623,"about_ca_system_score_gemma":0.0002144739,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006770723,"about_ca_topic_score_gemma":0.001223143,"domain_scores_codex":[0.9990938,0.0002122436,0.0001294764,0.0002175507,0.0002446471,0.0001023864],"domain_scores_gemma":[0.9975761,0.001044913,0.0007606246,0.0001496328,0.0003130263,0.0001557467],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00008912588,0.00001148296,0.9819363,0.00003113207,0.00004325876,0.001009532,0.00006767903,0.0001404587,0.002259672,0.0001157407,0.000328579,0.01396716],"study_design_scores_gemma":[0.000006701581,0.0000589365,0.9858175,0.00003286081,0.00007749,0.01007054,0.0002492516,0.0007450358,0.001104563,0.0003871772,0.00144211,0.000007937837],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9934208,0.003600478,0.000768144,0.0004065304,0.00001175206,0.000006440961,0.0008229575,0.00001851466,0.000944341],"genre_scores_gemma":[0.9973131,0.001134026,0.0005507451,0.0000619065,0.00002732968,0.000006694713,0.0007993099,0.0000077835,0.00009903117],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001788217,"threshold_uncertainty_score":0.006234944,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02229557956425453,"score_gpt":0.3100442483331768,"score_spread":0.2877486687689222,"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."}}