{"id":"W4396553573","doi":"10.1038/s41591-024-02912-z","title":"Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy","year":2024,"lang":"en","type":"article","venue":"Nature Medicine","topic":"Cerebral Palsy and Movement Disorders","field":"Medicine","cited_by":39,"is_retracted":false,"has_abstract":false,"ca_institutions":"Kingston Health Sciences Centre; Queen's University","funders":"Vetenskapsrådet; Science and Technology Commission of Shanghai Municipality; VINNOVA; National Natural Science Foundation of China","keywords":"Cerebral palsy; Medicine; Exome sequencing; Cohort; Etiology; Pediatrics; Asphyxia; Genetic testing; Cohort study; Intellectual disability; Bioinformatics; Genetics; Mutation; Physical medicine and rehabilitation; Gene; Internal medicine; Biology; Psychiatry","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":[0.0004444323,0.0007763045,0.0004566135,0.001688439,0.0006860697,0.0009573884,0.0006751464,0.001300627,0.002663998],"category_scores_gemma":[0.003371504,0.0002555667,0.0004211931,0.001606225,0.001088443,0.0004251242,0.0008590893,0.0005650745,0.0003573617],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006252212,"about_ca_system_score_gemma":0.0005169501,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007268838,"about_ca_topic_score_gemma":0.007228437,"domain_scores_codex":[0.9992963,0.00007449034,0.00007931529,0.0002260493,0.0001806958,0.0001431061],"domain_scores_gemma":[0.9989277,0.0005599071,0.0003051469,0.00004608255,0.00007938355,0.00008166501],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009775748,0.0001508458,0.8559436,0.0001692939,0.0003161078,0.05395821,0.002328147,0.002238113,0.04683543,0.001167536,0.002474614,0.03344053],"study_design_scores_gemma":[0.00003997539,0.0001499656,0.9406649,0.000105379,0.0001984066,0.04740687,0.001999564,0.0008671585,0.005059671,0.0009695834,0.002506379,0.00003205503],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973678,0.0003168304,0.0001837125,0.0002634795,0.00001058784,0.000006073454,0.0007427732,0.00001533936,0.001093524],"genre_scores_gemma":[0.9985806,0.0002591373,0.0003474884,0.0001063494,0.00001476257,0.000008876168,0.0003966045,0.00001293321,0.0002733042],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007268838,"threshold_uncertainty_score":0.01445305,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01362280435712776,"score_gpt":0.3000535556358744,"score_spread":0.2864307512787467,"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."}}