{"id":"W2165444953","doi":"10.1002/gcc.22319","title":"An infant with <scp><i>MLH</i></scp><i>3</i> variants, <scp><i>FOXG</i></scp><i>1</i>‐duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study","year":2015,"lang":"en","type":"article","venue":"Genes Chromosomes and Cancer","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"NIH Clinical Center; University of California, Los Angeles; University of Alabama at Birmingham","keywords":"Exome sequencing; MSH6; Biology; Proband; Pathology; Medicine; Genetics; Cancer; Mutation; DNA mismatch repair; Colorectal cancer","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":[0.0002128285,0.001433796,0.0006303296,0.001096819,0.0007392672,0.0006201811,0.0005466395,0.001966185,0.001391915],"category_scores_gemma":[0.001319655,0.0004829022,0.00061199,0.0005734218,0.0007118464,0.0004514692,0.0006482101,0.001420266,0.0003854399],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004997069,"about_ca_system_score_gemma":0.0003687084,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003361633,"about_ca_topic_score_gemma":0.002577762,"domain_scores_codex":[0.9996564,0.00002957699,0.0000396847,0.0001124032,0.00008354392,0.00007839989],"domain_scores_gemma":[0.999602,0.0001295597,0.00006757203,0.00001783939,0.00003986898,0.0001431197],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00009006495,0.00005287656,0.01028243,0.00003337759,0.00001765458,0.97517,0.0004116176,0.00008532099,0.0102253,0.0001461798,0.0004834579,0.003001804],"study_design_scores_gemma":[0.00001537968,0.0002274848,0.0323736,0.00003210181,0.00005226066,0.9617755,0.0002039335,0.0003529894,0.003136894,0.0001678526,0.001642171,0.00001986607],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9919661,0.000962299,0.001208808,0.001227511,0.0001358721,0.00008513329,0.0007094506,0.0001252445,0.003579576],"genre_scores_gemma":[0.9953676,0.000746437,0.0008417236,0.0004991365,0.0001032152,0.00002974401,0.0002870104,0.00003351815,0.002091588],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003361633,"threshold_uncertainty_score":0.006684124,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04666055472989356,"score_gpt":0.3245318295796983,"score_spread":0.2778712748498047,"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."}}