{"id":"W2208559487","doi":"10.1038/ejhg.2015.192","title":"Mosaic parental germline mutations causing recurrent forms of malformations of cortical development","year":2015,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":36,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Agence Nationale de la Recherche","keywords":"Germline; Biology; Genetics; Germline mosaicism; Mosaic; Exome sequencing; Germline mutation; Sibling; Mutation; Exome; Gene; Psychology","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0002583951,0.00122803,0.000513752,0.001253713,0.0004828737,0.0005620059,0.000749103,0.001033243,0.007733193],"category_scores_gemma":[0.00108536,0.0004801753,0.0005133538,0.001014931,0.0007952758,0.0002791127,0.001151539,0.0008872413,0.0009108363],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004343402,"about_ca_system_score_gemma":0.0004869862,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001564175,"about_ca_topic_score_gemma":0.002822303,"domain_scores_codex":[0.99938,0.00006913212,0.00007287365,0.0001639939,0.0001934116,0.000120605],"domain_scores_gemma":[0.9992813,0.0001999444,0.0002198604,0.00009210964,0.00004402327,0.0001626485],"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":[0.001077786,0.0002104641,0.03583358,0.0001311456,0.0003414355,0.318601,0.001192443,0.0009946575,0.6168909,0.006994219,0.001235906,0.01649653],"study_design_scores_gemma":[0.0002251237,0.0005451866,0.1392536,0.00004324061,0.0005826993,0.7420042,0.0007166421,0.002414613,0.1056361,0.002737323,0.005712379,0.0001287648],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9928861,0.0002734036,0.001672372,0.00008304405,0.00002954139,0.00001738981,0.0008028051,0.0001218024,0.004113351],"genre_scores_gemma":[0.997604,0.0001320151,0.0008348541,0.00002132247,0.00001566212,0.000006032798,0.0002259443,0.00005042397,0.001109844],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007733193,"threshold_uncertainty_score":0.02587014,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03404727916225629,"score_gpt":0.2811413226770087,"score_spread":0.2470940435147524,"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."}}