{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.005571743,0.003177939,0.001639964,0.00663761,0.001080219,0.002949747,0.002929947,0.001462242,0.04513499],"category_scores_gemma":[0.01877362,0.002035091,0.002619058,0.00362029,0.0008737822,0.002340425,0.004670697,0.002928479,0.02556624],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001136197,"about_ca_system_score_gemma":0.004183567,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006044604,"about_ca_topic_score_gemma":0.005888042,"domain_scores_codex":[0.9968114,0.0006171556,0.0004690825,0.0007746973,0.001114796,0.0002128154],"domain_scores_gemma":[0.9904808,0.005257486,0.001146105,0.0007837137,0.001937098,0.0003946288],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001540217,0.0001183272,0.007546027,0.003883897,0.0009223265,0.001103406,0.0008871669,0.004315963,0.01860922,0.004254606,0.7686785,0.1881403],"study_design_scores_gemma":[0.00166339,0.0004413575,0.04054955,0.001464542,0.000752017,0.004597584,0.0004883014,0.0940823,0.07228378,0.03172343,0.7510399,0.000913952],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"software","genre_gemma":"software","genre_scores_codex":[0.006487346,0.00120314,0.2421007,0.0006044337,0.0002943494,0.0007324094,0.07372888,0.6684902,0.006358533],"genre_scores_gemma":[0.06330578,0.002045559,0.5459508,0.002246352,0.0003936819,0.004698097,0.195885,0.1738501,0.01162465],"genre_candidate":"software","genre_consensus":"software","teacher_disagreement_score":0.04513499,"threshold_uncertainty_score":0.1509916,"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."}}