{"id":"W4297226933","doi":"10.3389/fgene.2022.983668","title":"De novo mutations, genetic mosaicism and human disease","year":2022,"lang":"en","type":"review","venue":"Frontiers in Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":65,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"Natural Sciences and Engineering Research Council of Canada","keywords":"Biology; Germline mosaicism; Genetics; Mutation; Germline; Somatic cell; Loss of heterozygosity; Epigenetics; Germline mutation; Point mutation; Lineage (genetic); Gene; Allele","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003610756,0.0006469233,0.0008822494,0.001630164,0.0002026049,0.0007823332,0.0005578977,0.000864607,0.002956255],"category_scores_gemma":[0.0005259467,0.0001817226,0.0003094448,0.001423892,0.0006036786,0.000841778,0.0005528688,0.001293081,0.001435259],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005308578,"about_ca_system_score_gemma":0.0008417287,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000855365,"about_ca_topic_score_gemma":0.001324372,"domain_scores_codex":[0.9998428,0.00002769264,0.00002003325,0.00002839785,0.00006296734,0.00001811955],"domain_scores_gemma":[0.9997895,0.0001235521,0.000024908,0.000006977401,0.00003645456,0.00001856542],"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":[0.00005595805,0.00003192123,0.0002445355,0.011722,0.00005707647,0.0006137498,0.00009188332,0.0003470654,0.002094597,0.007819738,0.04010052,0.9368209],"study_design_scores_gemma":[0.000008177475,0.00003694265,0.0006894647,0.002363078,0.00004611054,0.00444339,0.00005084373,0.00004849087,0.0003433607,0.004218333,0.9877405,0.00001136079],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00008885018,0.9982011,0.000110171,0.0001921389,0.0001624043,0.000001789898,0.000010581,0.000007318399,0.00122564],"genre_scores_gemma":[0.0007760538,0.9980841,0.0001179762,0.0001583486,0.000140631,0.000002745549,0.00002633899,0.000001511452,0.0006922874],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.002956255,"threshold_uncertainty_score":0.009889603,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01615803771040004,"score_gpt":0.2856110732881016,"score_spread":0.2694530355777016,"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."}}