{"id":"W4294127795","doi":"10.1146/annurev-genom-120121-105450","title":"Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk","year":2022,"lang":"en","type":"review","venue":"Annual Review of Genomics and Human Genetics","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"National Cancer Institute","keywords":"Biology; Genetics; Suppressor; Phenotype; Allele; Gene; PTEN; Disease; Genotype; Genetic testing; Tumor suppressor gene; Mutation; Medicine; Carcinogenesis; Pathology","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0005375821,0.0005170884,0.002614521,0.0002164601,0.0001379021,0.00004652777,0.0002307988,0.0001324901,0.000215238],"category_scores_gemma":[0.0001131203,0.0004236326,0.0003363864,0.0001997561,0.0001585502,0.00006074198,0.0002136792,0.0005263916,0.000002013921],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000520674,"about_ca_system_score_gemma":0.000410788,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002755023,"about_ca_topic_score_gemma":0.000002732825,"domain_scores_codex":[0.997018,0.0003133877,0.001407917,0.0006461129,0.0003010745,0.0003134555],"domain_scores_gemma":[0.998103,0.0004354476,0.0006537107,0.0005289874,0.00005391844,0.0002249521],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00001018338,0.0002020595,0.00007392956,0.4820086,0.0001306629,0.0004328748,0.00021375,7.294358e-7,0.00001737287,0.0001994779,0.0004138389,0.5162965],"study_design_scores_gemma":[0.0003609339,0.0009147922,0.0004964386,0.06690649,0.002461363,0.001045098,0.00006760198,0.000002961021,0.000005284667,0.0000795138,0.9272917,0.0003678229],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.02009211,0.9768148,0.000002186973,0.00001428172,0.00005571583,0.001943106,0.0009408479,0.00001128758,0.0001256764],"genre_scores_gemma":[0.0002869976,0.9986807,0.0003451682,0.00009127125,0.00006066989,0.0001325572,0.0002506309,0.00008280137,0.00006923135],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9268779,"threshold_uncertainty_score":0.9998215,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03359930550423359,"score_gpt":0.3172695543396856,"score_spread":0.2836702488354521,"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."}}