{"id":"W2120282622","doi":"10.1056/nejmoa1314432","title":"Somatic Mutations in Cerebral Cortical Malformations","year":2014,"lang":"en","type":"article","venue":"New England Journal of Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":394,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"National Institute of Neurological Disorders and Stroke; National Institute of Mental Health; National Institute of General Medical Sciences; National Human Genome Research Institute; Manton Center for Orphan Disease Research, Boston Children's Hospital; Howard Hughes Medical Institute","keywords":"Somatic cell; Medicine; Germline mutation; Mutation; Genetics; Disease; Neuroscience; Pathology; Gene; Biology","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":[0.0003001098,0.0003758138,0.0001636545,0.001167824,0.0002166104,0.0002501314,0.0002416448,0.0003101852,0.002083663],"category_scores_gemma":[0.00112431,0.0000940768,0.0001357999,0.0005066099,0.0003694617,0.00007016007,0.000366154,0.0002007142,0.0002444674],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003670298,"about_ca_system_score_gemma":0.000327133,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001275488,"about_ca_topic_score_gemma":0.001773787,"domain_scores_codex":[0.9997267,0.00003003688,0.00002497217,0.00007734495,0.0001000101,0.00004091772],"domain_scores_gemma":[0.9996116,0.0001309548,0.0001381137,0.00002809138,0.00004793581,0.00004345231],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005067378,0.0001046417,0.6211463,0.0003647552,0.0002413559,0.02509406,0.0005177475,0.001901535,0.2923993,0.0009228417,0.0009323913,0.05586828],"study_design_scores_gemma":[0.00006244093,0.0002341726,0.7695772,0.0001129875,0.0002241066,0.09351758,0.0002311442,0.002145405,0.1283942,0.000775509,0.004701061,0.00002404449],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995953,0.0004550579,0.001279139,0.00003681646,0.000004056337,0.00002280379,0.0003936846,0.00004516172,0.001810364],"genre_scores_gemma":[0.998485,0.0001991657,0.0009307643,0.00002220088,0.000003990433,0.000005965424,0.0002352001,0.00000553259,0.0001121152],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002083663,"threshold_uncertainty_score":0.006970525,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007763776567543828,"score_gpt":0.2478435847449767,"score_spread":0.2400798081774329,"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."}}