{"id":"W2124337127","doi":"10.1093/bioinformatics/bts650","title":"HD-CNV: hotspot detector for copy number variants","year":2012,"lang":"en","type":"article","venue":"Bioinformatics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":21,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University","funders":"Natural Sciences and Engineering Research Council of Canada","keywords":"Copy-number variation; Computer science; Copy number analysis; Source code; Biology; Genetics; Genome; Gene; Programming language","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":[0.0001773062,0.0001331995,0.0001159097,0.00002045431,0.0001168638,0.00003396296,0.0001367072,0.0001292128,0.000111956],"category_scores_gemma":[0.00005407404,0.0001205874,0.00008672487,0.00004560847,0.00002984215,0.00001770488,0.00006525012,0.00003816025,0.0001590952],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001648345,"about_ca_system_score_gemma":0.00005267423,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000005722679,"about_ca_topic_score_gemma":0.000003951858,"domain_scores_codex":[0.9992067,0.00001124043,0.0002731721,0.00007870018,0.0000852934,0.0003449437],"domain_scores_gemma":[0.9994587,0.00001444455,0.0001037921,0.0002472448,0.00006945519,0.0001063381],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001262656,0.001812019,0.3652882,0.002520194,0.001963234,0.00000307991,0.01566029,0.0003360776,0.2177879,0.06139961,0.2858919,0.04607486],"study_design_scores_gemma":[0.0025696,0.0004484853,0.023759,0.00003638081,0.0001370522,0.0001562982,0.002037413,0.00154129,0.2406195,0.0003435532,0.7272498,0.001101634],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9366383,0.0002556621,0.04608349,0.000083955,0.001008792,0.0005413194,0.0003505585,0.0000430758,0.01499487],"genre_scores_gemma":[0.9633028,0.00004292313,0.03393586,0.0003169515,0.0005189593,0.00004950515,0.0002066626,0.00001825728,0.001608076],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4413579,"threshold_uncertainty_score":0.4917412,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01350927504521143,"score_gpt":0.2454835260581324,"score_spread":0.2319742510129209,"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."}}