{"id":"W3210633313","doi":"10.1101/mcs.a006125","title":"Somatic mosaicism detected by genome-wide sequencing in 500 parent–child trios with suspected genetic disease: clinical and genetic counseling implications","year":2021,"lang":"en","type":"article","venue":"Molecular Case Studies","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":26,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; Women's Health Research Institute; University of British Columbia","funders":"Genome British Columbia; Provincial Health Services Authority; BC Children's Hospital; Children's Hospital Foundation; Canadian Institutes of Health Research; Genome Canada","keywords":"Proband; Sanger sequencing; Exome sequencing; Germline mosaicism; Genetics; Genetic counseling; Disease; Exome; Biology; Genetic testing; DNA sequencing; Mutation; Medicine; Gene; Pathology","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":[0.0004405544,0.0003160007,0.0002216105,0.001347757,0.0006391086,0.0004870029,0.0002109764,0.0006492507,0.001628061],"category_scores_gemma":[0.002737443,0.0002333309,0.0001913975,0.0006306887,0.0005622079,0.0002104125,0.0003433483,0.0003984491,0.0002125754],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003439423,"about_ca_system_score_gemma":0.0002301446,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003246525,"about_ca_topic_score_gemma":0.004947742,"domain_scores_codex":[0.9994738,0.00010761,0.00006659771,0.0001384504,0.0001595473,0.00005406961],"domain_scores_gemma":[0.9991034,0.0004481403,0.0001794076,0.00006450885,0.00008053002,0.0001240305],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000166954,0.00007341939,0.9097075,0.00002991851,0.00004846787,0.05269692,0.001874942,0.0002466679,0.02501836,0.0001371702,0.0005031539,0.009496479],"study_design_scores_gemma":[0.00002303698,0.000157129,0.8398538,0.00002255349,0.00006681258,0.1515562,0.0008011513,0.001018594,0.005200174,0.0001654919,0.001115102,0.0000198526],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989042,0.0001294242,0.0002650282,0.00004378429,0.000003565615,0.00001254948,0.00007930813,0.00001292264,0.0005491367],"genre_scores_gemma":[0.9991508,0.0001377289,0.0004194295,0.00003827318,0.000008602844,0.000009011619,0.0001378816,0.000006894151,0.00009143285],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003246525,"threshold_uncertainty_score":0.006455243,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01447455414582451,"score_gpt":0.275634827143052,"score_spread":0.2611602729972275,"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."}}