{"id":"W4415976494","doi":"10.1101/2025.11.04.25339178","title":"Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy","year":2025,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Artificial Intelligence in Medicine (Canada)","funders":"National Institutes of Health; Cerebral Palsy Alliance; Cerebral Palsy Alliance Research Foundation; Children's Discovery Institute","keywords":"Consanguinity; Phenotype; Mendelian inheritance; Gene; Multifactorial Inheritance; Allele; Genetic variation; Inheritance (genetic algorithm)","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":[0.0002425018,0.0005823561,0.0002223519,0.0009413854,0.0004777887,0.00035795,0.0002215511,0.0002627055,0.002103519],"category_scores_gemma":[0.0009502849,0.0002009078,0.0002116146,0.0005528626,0.0004255157,0.00009901204,0.0003891252,0.0002733094,0.0001766228],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001629771,"about_ca_system_score_gemma":0.0001165769,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004419469,"about_ca_topic_score_gemma":0.003892694,"domain_scores_codex":[0.9997469,0.0000615055,0.00002181361,0.00009230771,0.00004697015,0.00003058657],"domain_scores_gemma":[0.9997591,0.00008823851,0.00006966375,0.00001993786,0.0000175659,0.0000454427],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001254051,0.0001237784,0.8262592,0.00006224487,0.0002975604,0.05380675,0.001616007,0.0006471626,0.09820862,0.0007650452,0.0005786055,0.01638095],"study_design_scores_gemma":[0.00004666372,0.0002811639,0.9315499,0.00003666794,0.000189312,0.05481461,0.0007294329,0.001988539,0.008627814,0.0004466065,0.001253399,0.00003582922],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992157,0.00008813464,0.0003053074,0.00001390249,0.000002823478,0.000002711147,0.0000866162,0.000007730553,0.0002770357],"genre_scores_gemma":[0.999593,0.00005244896,0.0001751047,0.000008572116,0.000002520796,0.000002056862,0.00006475767,0.000004191767,0.00009739038],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004419469,"threshold_uncertainty_score":0.008787513,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02297473923073511,"score_gpt":0.2505898613875945,"score_spread":0.2276151221568594,"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."}}