{"id":"W2101932191","doi":"10.1093/molehr/gau112","title":"Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants","year":2014,"lang":"en","type":"article","venue":"Molecular Human Reproduction","topic":"Gestational Trophoblastic Disease Studies","field":"Medicine","cited_by":86,"is_retracted":false,"has_abstract":true,"ca_institutions":"Child and Family Research Institute; University of British Columbia","funders":"Canadian Institutes of Health Research; Rare Disease Foundation; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; National Science Foundation","keywords":"Biology; Genetics; Proband; Candidate gene; Exome sequencing; Sanger sequencing; Meiosis II; Recurrent miscarriage; Exome; Gene; Polar body; Phenotype; Meiosis; Mutation; Miscarriage; Pregnancy","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0004963867,0.000271043,0.0004500862,0.0003117669,0.0003552113,0.00005293064,0.0001285702,0.00004914266,0.0000762433],"category_scores_gemma":[0.0008290824,0.0002665631,0.0001078725,0.0003818794,0.00004454353,0.0000622571,0.0001619734,0.0001653749,0.0002356312],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003146246,"about_ca_system_score_gemma":0.00005684522,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001339582,"about_ca_topic_score_gemma":0.00003724133,"domain_scores_codex":[0.9974023,0.0001366811,0.000457999,0.0009914958,0.0006244218,0.0003871669],"domain_scores_gemma":[0.9983297,0.00001567502,0.0001313897,0.0008004836,0.0003857922,0.0003369453],"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":[0.0002874422,0.0001352742,0.0008368055,0.0002105835,0.000208153,0.0001715649,0.0009589334,0.0007093921,0.9881855,0.001024293,0.004990225,0.002281814],"study_design_scores_gemma":[0.005099006,0.005164898,0.8381519,0.00226007,0.001260142,0.001138906,0.0006634294,0.0002944889,0.0721609,0.006624408,0.06546605,0.001715847],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9822267,0.00005900392,0.007958343,0.007798233,0.0004266474,0.0009497804,0.00004179774,0.0001307691,0.0004086939],"genre_scores_gemma":[0.9914242,0.000001591391,0.005772309,0.0008480768,0.0005009316,0.0001561122,0.00009360538,0.0000525005,0.001150656],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9160246,"threshold_uncertainty_score":0.9999787,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02151262559365116,"score_gpt":0.2776364476249168,"score_spread":0.2561238220312657,"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."}}