{"id":"W2885756245","doi":"10.1002/humu.23610","title":"Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar","year":2018,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":43,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Human Genome Research Institute","keywords":"Haploinsufficiency; Copy-number variation; Gene dosage; Biology; Interpretation (philosophy); Genetics; Computational biology; Focus (optics); Genome; Gene; Computer science; Phenotype","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":[0.01619036,0.0008311658,0.0009607619,0.00908569,0.0007306771,0.004792594,0.001711859,0.001313535,0.005140508],"category_scores_gemma":[0.08174336,0.0005971279,0.0005936535,0.005926345,0.00057952,0.001836704,0.002515795,0.001041438,0.002030483],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001408643,"about_ca_system_score_gemma":0.001498012,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005724297,"about_ca_topic_score_gemma":0.006447904,"domain_scores_codex":[0.985859,0.004399675,0.002840416,0.00224498,0.004114554,0.0005414643],"domain_scores_gemma":[0.9417315,0.02547379,0.007150574,0.01067256,0.01408858,0.0008829641],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001092864,0.0002318189,0.7528492,0.000558931,0.0002494959,0.00742137,0.003828113,0.005407242,0.01264646,0.001824331,0.02919318,0.184697],"study_design_scores_gemma":[0.0002506779,0.0002299049,0.7809063,0.0007708194,0.0005025182,0.01726772,0.003836176,0.03626206,0.04059864,0.006769901,0.1122135,0.0003918198],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9011284,0.003705729,0.03855885,0.003725988,0.0005759973,0.0005702686,0.0280496,0.008442158,0.01524304],"genre_scores_gemma":[0.8865777,0.0007949917,0.08670561,0.0006780233,0.0002498572,0.0002893263,0.02157425,0.001315922,0.001814268],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01619036,"threshold_uncertainty_score":0.08562386,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03384274723471344,"score_gpt":0.3486769979038906,"score_spread":0.3148342506691772,"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."}}