{"id":"W2922425754","doi":"10.1111/cge.13532","title":"Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses","year":2019,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Provincial Health Services Authority; University of British Columbia; Children's & Women's Health Centre of British Columbia; Island Health","funders":"Westfälische Wilhelms-Universität Münster","keywords":"Hypotonia; Exome sequencing; Medicine; Phenotype; Genetic heterogeneity; Camptodactyly; Scoliosis; Genetic counseling; Pediatrics; Compound heterozygosity; Encephalopathy; Bioinformatics; Dystonia; Genetics; Internal medicine; Gene; Biology; Anatomy; Surgery; 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":[0.0002146449,0.0006026191,0.0002517296,0.000832064,0.0003677965,0.0003103175,0.0002676594,0.0008236466,0.001894842],"category_scores_gemma":[0.0008150323,0.0001141651,0.0003220337,0.0004025888,0.0003126722,0.000183838,0.000436124,0.0003076553,0.0002564212],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001551744,"about_ca_system_score_gemma":0.0001069773,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006782218,"about_ca_topic_score_gemma":0.001172432,"domain_scores_codex":[0.9997745,0.00002854437,0.00002827369,0.0000896698,0.00004663059,0.00003242438],"domain_scores_gemma":[0.9997652,0.0001004423,0.00004138032,0.00002054653,0.0000264461,0.00004596066],"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":[0.001192329,0.0001272679,0.1973563,0.0002600972,0.0002212503,0.4619923,0.002000056,0.001759598,0.291488,0.001344619,0.001943757,0.04031441],"study_design_scores_gemma":[0.00008746386,0.0004332215,0.3743477,0.0001569455,0.0002890585,0.5515952,0.001056484,0.005788677,0.05522031,0.001988794,0.008959756,0.0000764061],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965776,0.0002331251,0.001314999,0.0001330166,0.00001975904,0.00001753692,0.0005415559,0.0000236903,0.001138837],"genre_scores_gemma":[0.997321,0.0001527474,0.00139887,0.000136048,0.0000145182,0.00001147247,0.0004358811,0.00001456851,0.0005150102],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001894842,"threshold_uncertainty_score":0.006338835,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05852461765291393,"score_gpt":0.3745745402332865,"score_spread":0.3160499225803725,"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."}}