{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00110049,0.0008907248,0.0007542349,0.003808993,0.0005977867,0.000875819,0.001529317,0.0009028277,0.0271674],"category_scores_gemma":[0.004844547,0.0005811274,0.000609316,0.002107542,0.0003432573,0.001087179,0.001336221,0.0006795038,0.006838083],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005866625,"about_ca_system_score_gemma":0.0007892197,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002611364,"about_ca_topic_score_gemma":0.003538969,"domain_scores_codex":[0.9991035,0.0001149823,0.00006827993,0.0003155781,0.0003252939,0.00007246545],"domain_scores_gemma":[0.9983572,0.0008323884,0.0002134975,0.0002139461,0.0002664107,0.0001165727],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001848641,0.0002574986,0.03716116,0.001060984,0.0003304762,0.001329516,0.000505127,0.007034252,0.08124176,0.01411098,0.4220212,0.4330984],"study_design_scores_gemma":[0.0009856548,0.0003326301,0.07413284,0.0001688067,0.0002910713,0.005900968,0.0002519319,0.2934722,0.2368312,0.05621589,0.3309665,0.0004503009],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.04421918,0.000571664,0.5692329,0.0005685245,0.000233644,0.0005257626,0.07546123,0.2972821,0.011905],"genre_scores_gemma":[0.1564842,0.0002339173,0.7397241,0.0004768746,0.0001105045,0.0009626942,0.07365299,0.01429847,0.01405626],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.0271674,"threshold_uncertainty_score":0.09088403,"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."}}