{"id":"W4308989302","doi":"10.1007/s00439-022-02494-1","title":"SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing","year":2022,"lang":"en","type":"article","venue":"Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; SickKids Foundation; Ted Rogers Centre for Heart Research; Hospital for Sick Children","funders":"Hospital for Sick Children; Autism Speaks","keywords":"Biology; Human genetics; Whole genome sequencing; Genetics; Copy-number variation; Computational biology; Genome; DNA sequencing; Genome Biology; Genomics; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003010785,0.0001186458,0.0001567596,0.00002698931,0.0002618632,0.00001785842,0.0002243837,0.00008130636,0.0001225557],"category_scores_gemma":[0.00005568377,0.0001352908,0.0001050067,0.00007377485,0.00006929,0.000001501306,0.0002006702,0.00008729468,0.000003881912],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004788149,"about_ca_system_score_gemma":0.000131895,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009039769,"about_ca_topic_score_gemma":0.000007451809,"domain_scores_codex":[0.9988385,0.0001087706,0.0004408991,0.0002852169,0.0001326106,0.0001940423],"domain_scores_gemma":[0.9992921,0.00002356792,0.000195281,0.0002745517,0.0001609318,0.00005354097],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001476402,0.0002098593,0.01008281,0.00006773263,0.0001474852,0.000001172444,0.0008403933,0.02386026,0.9620102,0.000117119,0.001765263,0.0007500858],"study_design_scores_gemma":[0.01324794,0.01114867,0.0491039,0.00009308534,0.0008274974,0.000187523,0.008358778,0.02962641,0.7549365,0.002086152,0.127021,0.00336254],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9655682,0.0002535787,0.0328242,0.00001320168,0.0001934642,0.0002779959,0.0007469082,0.00001221307,0.0001102586],"genre_scores_gemma":[0.9933473,0.00001115134,0.004622663,0.00007662502,0.0001039111,0.00007302156,0.001134912,0.00002713843,0.0006032728],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2070737,"threshold_uncertainty_score":0.5516998,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02088320722252394,"score_gpt":0.2884226669290667,"score_spread":0.2675394597065427,"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."}}