{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004299302,0.0005004735,0.0001516281,0.001050537,0.0002823545,0.0004186953,0.0002511547,0.0004214971,0.0006950085],"category_scores_gemma":[0.00138636,0.00008770792,0.0001440616,0.0003199958,0.0002963033,0.000117767,0.0002703585,0.0002094413,0.0001468032],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005530145,"about_ca_system_score_gemma":0.0005867576,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01373053,"about_ca_topic_score_gemma":0.02104911,"domain_scores_codex":[0.9997857,0.00003614966,0.00001926989,0.00005112447,0.00007808505,0.00002970092],"domain_scores_gemma":[0.9994987,0.0003034439,0.00003818357,0.00003134653,0.00008087311,0.00004748652],"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":[0.0006985624,0.0001208337,0.2091476,0.0002413637,0.0002093701,0.04822347,0.0009111588,0.006091799,0.6249307,0.0007748732,0.0009026457,0.1077477],"study_design_scores_gemma":[0.00008478654,0.0005656871,0.622853,0.0001776618,0.0004211976,0.1141117,0.00080765,0.02861846,0.2211228,0.00127469,0.009886547,0.00007595405],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9913299,0.0008371511,0.005169537,0.0002224514,0.00001422847,0.00005767675,0.0003965527,0.00008229047,0.001890226],"genre_scores_gemma":[0.991326,0.0004557842,0.007541538,0.0001055156,0.000008538768,0.00001218438,0.0002572258,0.00001312397,0.0002800402],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01373053,"threshold_uncertainty_score":0.02730119,"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."}}