{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001198262,0.0001083769,0.0001245115,0.00004826043,0.0001802333,0.00004019796,0.00008124624,0.000139371,0.00002694512],"category_scores_gemma":[0.0001399271,0.00009538165,0.00005818829,0.0001255777,0.0001404353,0.00001609616,0.00006693916,0.0001349779,0.0000246689],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004810284,"about_ca_system_score_gemma":0.00007607365,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000621273,"about_ca_topic_score_gemma":0.005158958,"domain_scores_codex":[0.9982921,0.0005261917,0.0006024556,0.0003100496,0.00008541703,0.0001837436],"domain_scores_gemma":[0.9993704,0.00004379678,0.0001832464,0.0002676799,0.0001054563,0.00002940365],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004936686,0.002636377,0.6723667,0.0001532879,0.00057426,0.0003958697,0.03617949,0.01702387,0.2203166,0.03298486,0.005612444,0.006819532],"study_design_scores_gemma":[0.008525643,0.001067239,0.8509572,0.0003319321,0.000180552,0.000192903,0.005120977,0.08969782,0.02703781,0.009296891,0.006390227,0.001200865],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9919193,0.00002239098,0.006506885,0.0001942682,0.0002113639,0.000228079,0.00004878491,0.0000106957,0.0008581704],"genre_scores_gemma":[0.9968867,0.00001010187,0.001800921,0.0001293137,0.0003515814,0.00001082198,0.0006535765,0.00001278708,0.0001441553],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1932788,"threshold_uncertainty_score":0.3889551,"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."}}