{"id":"W1792639881","doi":"10.1186/1471-2164-16-s1-s12","title":"Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome","year":2015,"lang":"en","type":"article","venue":"BMC Genomics","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":27,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Trillium Health Centre; Credit Valley Hospital; Hospital for Sick Children","funders":"Hospital for Sick Children; University of Toronto; Government of Ontario; Genome Canada; Ontario Genomics; Ontario Genomics Institute","keywords":"Frameshift mutation; Biology; Exome sequencing; Autopsy; Exome; Genetics; Mutation; Computational biology; Evolutionary biology; Pathology; Medicine; Gene","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":[],"consensus_categories":[],"category_scores_codex":[0.0002735047,0.0001381646,0.0003996779,0.0001824192,0.00001319668,0.00001103667,0.0001503423,0.0001215621,0.000009981916],"category_scores_gemma":[0.0001208002,0.0001318685,0.0001111616,0.0003686084,0.00007556722,0.000003403856,0.00009068898,0.00004886839,0.000002390191],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002930159,"about_ca_system_score_gemma":0.0001536596,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001827834,"about_ca_topic_score_gemma":0.0004330742,"domain_scores_codex":[0.9988807,0.00006168404,0.0004371832,0.0002857088,0.0001464471,0.0001882226],"domain_scores_gemma":[0.9991294,0.00002635001,0.0002684299,0.0003622942,0.0001301451,0.00008339641],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00006128452,0.0002322701,0.8273186,0.0001262154,0.0007455667,0.0000162171,0.0008508452,0.01921492,0.1499848,0.00005155857,0.00004652949,0.001351179],"study_design_scores_gemma":[0.001512272,0.001214988,0.9363091,0.00005834358,0.0006625474,0.0001051281,0.001262723,0.001499101,0.05611356,0.00009176436,0.0008357944,0.0003346851],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969674,0.0005614941,0.002004169,0.00002901532,0.0000406602,0.000226797,0.00005703289,0.000003672496,0.00010973],"genre_scores_gemma":[0.9892156,0.00003028587,0.01046116,0.00002432323,0.00001187673,0.00003086911,0.0001270201,0.0000172297,0.00008169038],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1089905,"threshold_uncertainty_score":0.537744,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02205426162768058,"score_gpt":0.2584966924874054,"score_spread":0.2364424308597248,"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."}}