{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000249554,0.000616526,0.0003917266,0.0009357714,0.000336886,0.0004532507,0.0003907683,0.0007517347,0.002041282],"category_scores_gemma":[0.001209936,0.0001650897,0.0004335995,0.0008769057,0.0002672047,0.0001471124,0.00031388,0.000334242,0.0002809734],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002111557,"about_ca_system_score_gemma":0.0001453759,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001203673,"about_ca_topic_score_gemma":0.001469943,"domain_scores_codex":[0.999754,0.00002895687,0.00003089517,0.00008962863,0.00005934773,0.00003714786],"domain_scores_gemma":[0.999581,0.0001953312,0.000118506,0.00002495554,0.00002714152,0.00005289227],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.002056374,0.0002048714,0.3359249,0.0003578171,0.000813787,0.3430085,0.00185788,0.001672529,0.2686934,0.0008688026,0.001717137,0.04282404],"study_design_scores_gemma":[0.0001499951,0.0005818172,0.6562408,0.0001139926,0.0007942857,0.3048961,0.0005091705,0.00336772,0.02734251,0.0007012155,0.005236607,0.00006566019],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973958,0.0005093156,0.000977157,0.00011385,0.000008819247,0.00001976913,0.0006092092,0.00002600659,0.0003401832],"genre_scores_gemma":[0.9977495,0.0003396749,0.0007640772,0.00007874577,0.00001961775,0.0000144751,0.0006311582,0.00001543558,0.0003873877],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002041282,"threshold_uncertainty_score":0.006828785,"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."}}