{"id":"W2102469725","doi":"10.1093/nar/gkn378","title":"Impact of whole genome amplification on analysis of copy number variants","year":2008,"lang":"en","type":"article","venue":"Nucleic Acids Research","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":90,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Cancer Agency","funders":"University of British Columbia; Michael Smith Health Research BC; Genome British Columbia; Canada's Michael Smith Genome Sciences Centre; Eli Lilly and Company","keywords":"Biology; Copy-number variation; Genome; Genetics; Copy number analysis; SNP array; Human genome; Gene duplication; Multiple displacement amplification; Chromosome; Computational biology; Gene; Single-nucleotide polymorphism; Polymerase chain reaction; DNA extraction","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":[0.0003510212,0.00008440422,0.0001931881,0.0001967205,0.0001067021,0.000008075447,0.0002364977,0.0001082785,0.0004974346],"category_scores_gemma":[0.00007368987,0.0000741006,0.0001863976,0.000606467,0.0001769853,0.00000442818,0.00008224033,0.00009597492,0.00005079209],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004101332,"about_ca_system_score_gemma":0.0001550792,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002521994,"about_ca_topic_score_gemma":0.000007842239,"domain_scores_codex":[0.9988878,0.000122451,0.0002445609,0.0002229689,0.000298534,0.0002237023],"domain_scores_gemma":[0.9989696,0.00002635574,0.0000823212,0.000485353,0.0003727176,0.00006364296],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001514724,0.0002482171,0.2467331,0.00001223811,0.0007665231,0.00000162662,0.0003786774,0.0008974843,0.7495747,0.0004498849,0.0005807453,0.0002053616],"study_design_scores_gemma":[0.0003027678,0.0005146513,0.9670447,0.00000410868,0.00005040161,0.000005721071,0.0001339489,0.000160313,0.03024887,0.00005748371,0.001383667,0.00009342848],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933589,0.00003502415,0.0002512401,0.00002564494,0.00001244703,0.0001020151,0.0002368105,0.000003267015,0.005974661],"genre_scores_gemma":[0.9980787,0.0001121199,0.0003515408,0.000007263315,0.00004749253,0.000009806708,0.00031533,0.00001211187,0.001065648],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7203116,"threshold_uncertainty_score":0.544656,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0448862034867131,"score_gpt":0.3491683921793312,"score_spread":0.304282188692618,"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."}}