{"id":"W4405595227","doi":"10.1212/wnl.0000000000210106","title":"Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia","year":2024,"lang":"en","type":"article","venue":"Neurology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Great Ormond Street Institute of Child Health; Medical Research Council; University College London; University of Toronto; National Heart, Lung, and Blood Institute; Hospital for Sick Children; State Government of Victoria; Cambridge University Hospitals; Eunice Kennedy Shriver National Institute of Child Health and Human Development; NIHR Cambridge Biomedical Research Centre; Rosetrees Trust; Department of Health and Social Care; National Institute for Health and Care Research; National Health and Medical Research Council; University of Cambridge; Royal Children's Hospital Foundation; Children's Hospital Foundation; Canadian Institutes of Health Research; American Heart Association","keywords":"Hypotonia; Exome sequencing; Exome; Genetic diagnosis; Medicine; Genetics; Biology; Computational biology; Mutation; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002626009,0.0004073094,0.0004132511,0.002756464,0.0001596219,0.0006859027,0.000401213,0.0005873666,0.002463047],"category_scores_gemma":[0.007080839,0.0001297717,0.0003223643,0.001349582,0.0001636587,0.0003523624,0.0004907018,0.0004872669,0.0003689345],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005081863,"about_ca_system_score_gemma":0.0006736575,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00190426,"about_ca_topic_score_gemma":0.004615433,"domain_scores_codex":[0.9986071,0.0005441878,0.0002104289,0.0001793905,0.0003533703,0.0001055792],"domain_scores_gemma":[0.995553,0.002396082,0.0006905509,0.0002123469,0.0009312583,0.0002166943],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001019594,0.0001913592,0.7532721,0.001827564,0.001298022,0.004397022,0.0002068102,0.001425499,0.01395637,0.001173205,0.009758835,0.2114735],"study_design_scores_gemma":[0.0001472085,0.0008552684,0.9414915,0.002211629,0.0008591626,0.01198428,0.0004170027,0.003729156,0.007351236,0.002182303,0.02874344,0.00002764655],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8454129,0.1019251,0.01347653,0.006891108,0.0004156876,0.0003548147,0.01007428,0.000138902,0.02131065],"genre_scores_gemma":[0.9599664,0.01991936,0.01280185,0.001722075,0.0002344625,0.00009437144,0.003761656,0.00002337091,0.001476502],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002756464,"threshold_uncertainty_score":0.01388788,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006948655053601553,"score_gpt":0.2156766108347566,"score_spread":0.208727955781155,"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."}}