{"id":"W3214724472","doi":"10.1182/blood-2021-154005","title":"High-Throughput Characterization of Cytogenomic Heterogeneity of MDS Using High-Resolution Optical Genome Mapping","year":2021,"lang":"en","type":"article","venue":"Blood","topic":"Cancer Genomics and Diagnostics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Copy number analysis; Biology; Computational biology; DNA sequencing; Genetics; Genome; Molecular Inversion Probe; Copy-number variation; Gene; Single-nucleotide polymorphism; Genotype","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002739334,0.0001779905,0.0001648672,0.001156454,0.0001701752,0.0003726791,0.0001462601,0.000179301,0.0008628404],"category_scores_gemma":[0.0002346885,0.0001022757,0.0001343871,0.000500682,0.0001883664,0.0001303343,0.0002541118,0.000188146,0.00026282],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000147646,"about_ca_system_score_gemma":0.0001116827,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005948078,"about_ca_topic_score_gemma":0.0009858053,"domain_scores_codex":[0.9998533,0.00002643744,0.00001042081,0.00004414578,0.00003932789,0.00002647655],"domain_scores_gemma":[0.9998605,0.00004617845,0.00002823177,0.00002211143,0.00002523514,0.0000176126],"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":[0.0001493578,0.00002101837,0.02954234,0.00005104418,0.00002263375,0.0001140254,0.00008557582,0.0004831151,0.9606165,0.0001498395,0.0001172534,0.008647287],"study_design_scores_gemma":[0.00002606904,0.0003015238,0.4283966,0.0000179575,0.00007518758,0.001751946,0.0002428289,0.009479774,0.5532957,0.0005965139,0.005790864,0.00002518135],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9821132,0.0007466742,0.01483605,0.00005179846,0.000005754966,0.00007482088,0.001383179,0.0001286623,0.0006598491],"genre_scores_gemma":[0.9879288,0.0002956924,0.009587024,0.00003732703,0.000009300182,0.00007340934,0.001477413,0.00002339453,0.0005676631],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001156454,"threshold_uncertainty_score":0.002886474,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01688870221070112,"score_gpt":0.234253363107672,"score_spread":0.2173646608969708,"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."}}