{"id":"W2793353350","doi":"10.1038/s41598-018-22323-8","title":"MSeq-CNV: accurate detection of Copy Number Variation from Sequencing of Multiple samples","year":2018,"lang":"en","type":"article","venue":"Scientific Reports","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"Concordia University","funders":"Directorate for Biological Sciences; University of Tehran; Iran National Science Foundation; Concordia University","keywords":"Copy-number variation; International HapMap Project; 1000 Genomes Project; Genome; Biology; Genetics; Computational biology; DNA sequencing; Poisson distribution; Human genome; Single-nucleotide polymorphism; Gene; Statistics; Mathematics; Genotype","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":[0.003391122,0.00103368,0.001158794,0.003148858,0.0004348831,0.0008869253,0.001107651,0.001120494,0.002777498],"category_scores_gemma":[0.009700988,0.0006014073,0.001062542,0.001626055,0.000497218,0.001279832,0.001870155,0.0009002872,0.001027127],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000562549,"about_ca_system_score_gemma":0.0006022672,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001510687,"about_ca_topic_score_gemma":0.002709738,"domain_scores_codex":[0.997308,0.0005369767,0.0001984817,0.0009997375,0.0008328974,0.0001239006],"domain_scores_gemma":[0.9969264,0.00183263,0.0004255008,0.0003565775,0.0003628188,0.00009608965],"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":[0.001342271,0.0002498958,0.1131885,0.001046866,0.001190551,0.001145845,0.0006062912,0.05378032,0.1784837,0.01234328,0.01149481,0.6251277],"study_design_scores_gemma":[0.0001763163,0.0003109476,0.05106152,0.0000915831,0.0001895578,0.003837357,0.000135212,0.7895455,0.1195294,0.01680384,0.0181342,0.0001845749],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.07927691,0.0009765297,0.906185,0.0002262764,0.0001206563,0.0001875888,0.002195189,0.0092275,0.001604431],"genre_scores_gemma":[0.1988437,0.0003599508,0.793534,0.0001645367,0.00006127985,0.0003723859,0.003645954,0.000777241,0.002241044],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.003391122,"threshold_uncertainty_score":0.01793414,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01757182245549688,"score_gpt":0.2402119566427749,"score_spread":0.222640134187278,"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."}}