{"id":"W2084654754","doi":"10.1186/1471-2377-14-22","title":"The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome","year":2014,"lang":"en","type":"article","venue":"BMC Neurology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"Essar Steel Algoma (Canada); McGill University and Génome Québec Innovation Centre; McGill University; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Institute of Genetics; Genome British Columbia; Ontario Genomics Institute; McGill University; Génome Québec; Canadian Institutes of Health Research; Ontario Genomics; Genome Canada; Government of Canada","keywords":"Microcephaly; Sanger sequencing; Exome sequencing; Frameshift mutation; Genetic counseling; Genetics; Genetic testing; Medicine; Epilepsy; Exome; Consanguinity; Disease gene identification; Genetic heterogeneity; Population; Mutation; Bioinformatics; Biology; Gene; Psychiatry","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001955945,0.0001103236,0.0001634871,0.00003147966,0.00006239916,0.000006708359,0.000238541,0.0001143499,0.000004834282],"category_scores_gemma":[0.0002519251,0.00009002319,0.0001144223,0.00004677402,0.000126789,0.000001100796,0.00008739138,0.00005431426,0.000001805695],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003640437,"about_ca_system_score_gemma":0.00008626616,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003883417,"about_ca_topic_score_gemma":0.0003549933,"domain_scores_codex":[0.9990026,0.0001287257,0.0002530445,0.0003123944,0.00004506704,0.000258145],"domain_scores_gemma":[0.9993392,0.0001548491,0.00008469477,0.0003288269,0.00004595684,0.0000465275],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008519628,0.0001542476,0.8269418,0.0001295395,0.00003955089,0.0000211245,0.00004523044,0.0003379135,0.1654837,0.0001381334,0.0006481143,0.005208653],"study_design_scores_gemma":[0.0009815842,0.001119211,0.9729753,0.000004584867,0.0000252937,0.0001166277,0.00001791555,0.00119521,0.01174069,0.001233444,0.01042631,0.0001638784],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979289,0.0007470798,0.0006781925,0.0001018254,0.0001823001,0.0002685703,0.00003838851,0.000003990395,0.0000508218],"genre_scores_gemma":[0.998844,0.0001722742,0.0003746017,0.0003573506,0.0000723323,0.000123781,0.00001910025,0.0000157616,0.00002079358],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.153743,"threshold_uncertainty_score":0.3671039,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01358745355719198,"score_gpt":0.2315631861141347,"score_spread":0.2179757325569427,"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."}}