{"id":"W4392131917","doi":"10.1002/mgg3.2402","title":"A homozygous stop codon in <i>HORMAD2</i> in a patient with recurrent digynic triploid miscarriage","year":2024,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children; McGill University; McGill University Health Centre","funders":"Canadian Institutes of Health Research; McGill University Health Centre; Génome Québec; McGill University","keywords":"Biology; Genetics; Sanger sequencing; Meiosis; SNP array; Exome sequencing; Aneuploidy; Single-nucleotide polymorphism; Gene; Genotype; Chromosome; Phenotype; Mutation","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":[0.000261022,0.001212928,0.0004890486,0.00168261,0.001019628,0.000576656,0.0007131107,0.002196501,0.001922305],"category_scores_gemma":[0.001508265,0.0004343234,0.0005178218,0.0007525259,0.0008059722,0.0004353904,0.0005952326,0.0009963356,0.0004675216],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000602183,"about_ca_system_score_gemma":0.0003159669,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001821051,"about_ca_topic_score_gemma":0.001337981,"domain_scores_codex":[0.9997035,0.00002655833,0.00003415455,0.0001166153,0.00005018173,0.00006898587],"domain_scores_gemma":[0.9993562,0.0002118051,0.0001446823,0.00003279718,0.00003948655,0.0002151646],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.000102432,0.0000293858,0.02633522,0.00003121004,0.00002055574,0.9616901,0.0004213265,0.000128333,0.008113842,0.0002129646,0.0003849207,0.002529754],"study_design_scores_gemma":[0.00001777621,0.0001356436,0.02064467,0.00001604348,0.00003091713,0.9759421,0.0001327961,0.0002631326,0.001864376,0.0001583666,0.0007771876,0.00001697425],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9941131,0.001105056,0.0009534414,0.001038501,0.00008489728,0.00004439386,0.0002145693,0.00007323051,0.002372851],"genre_scores_gemma":[0.9986134,0.0002159542,0.0004472962,0.0002141196,0.00007457566,0.000008470477,0.00008217471,0.00001134219,0.0003327355],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002196501,"threshold_uncertainty_score":0.006430745,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006433787523581298,"score_gpt":0.2303025352163482,"score_spread":0.2238687476927669,"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."}}