{"id":"W1997162359","doi":"10.1002/ajmg.a.36401","title":"Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement","year":2014,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":50,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's & Women's Health Centre of British Columbia; University of British Columbia","funders":"","keywords":"Scoliosis; Gene duplication; Chromosomal rearrangement; Phenotype; Autism; Incidence (geometry); Chromosome; Genetics; Medicine; Karyotype; Pediatrics; Biology; Gene","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":[0.0001610507,0.001208638,0.0005853818,0.001643398,0.0005593896,0.000544988,0.0003449059,0.0008215256,0.003273874],"category_scores_gemma":[0.001000485,0.0003029179,0.0003614193,0.0008549833,0.0007575795,0.0002737661,0.0005636845,0.0006703224,0.0004127975],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002212313,"about_ca_system_score_gemma":0.0003401744,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008451915,"about_ca_topic_score_gemma":0.00154825,"domain_scores_codex":[0.9996009,0.00005064962,0.00004586476,0.0001217856,0.00009402729,0.00008675658],"domain_scores_gemma":[0.9994105,0.0001727333,0.0001834701,0.00003604014,0.000039184,0.0001580524],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.000336699,0.000133611,0.2648303,0.0001359261,0.0000821112,0.5656887,0.001040921,0.0004332326,0.1439803,0.0006544528,0.0007557473,0.021928],"study_design_scores_gemma":[0.00003151513,0.0001901382,0.1809128,0.00001576771,0.00005390265,0.8087829,0.0001867231,0.0003148789,0.007710095,0.0002153348,0.0015648,0.00002115154],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9953988,0.0005049749,0.0007884102,0.0001862287,0.00001888577,0.00002844124,0.0002127646,0.00005395753,0.002807597],"genre_scores_gemma":[0.9974548,0.000313454,0.0008985585,0.00008850764,0.00005935751,0.00001548206,0.0002142564,0.00001726886,0.0009383181],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003273874,"threshold_uncertainty_score":0.01095217,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005451627225714962,"score_gpt":0.2113378938426399,"score_spread":0.2058862666169249,"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."}}