{"id":"W4200602081","doi":"10.1186/s40246-021-00371-y","title":"Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease","year":2021,"lang":"en","type":"article","venue":"Human Genomics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"Alberta Children's Hospital Research Institute; Genome Canada; Canadian Institutes of Health Research; Institute of Genetics; Ministarstvo Prosvete, Nauke i Tehnološkog Razvoja; Alberta Children's Hospital Foundation","keywords":"Human genetics; Genetics; Biology; Somatic cell; Population; Disease; Computational biology; Bioinformatics; Gene; Medicine; 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":[0.04939832,0.0009148791,0.001063928,0.004359589,0.000790111,0.003567542,0.001891462,0.001478483,0.002411691],"category_scores_gemma":[0.1510799,0.0003633003,0.00198766,0.0041204,0.0009668781,0.001618681,0.002653456,0.001331214,0.0007584448],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007093506,"about_ca_system_score_gemma":0.00112357,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003835791,"about_ca_topic_score_gemma":0.004954949,"domain_scores_codex":[0.9543653,0.0247725,0.004577409,0.01056103,0.004953443,0.0007704854],"domain_scores_gemma":[0.8099855,0.1575747,0.01231898,0.01279006,0.005733778,0.001597009],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002004122,0.0001899414,0.8785126,0.001452537,0.003945363,0.001657628,0.001727142,0.006048889,0.00996385,0.002472335,0.005549868,0.08647573],"study_design_scores_gemma":[0.0006067249,0.001378009,0.7536877,0.001319401,0.006495734,0.01031734,0.002287183,0.1415085,0.02499515,0.02043937,0.03658246,0.0003823495],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8839006,0.006187237,0.08845758,0.0009682465,0.0002199972,0.0003596191,0.01277518,0.00310199,0.004029431],"genre_scores_gemma":[0.9350838,0.0004891849,0.05178259,0.0003207807,0.00008330602,0.0001853064,0.01125145,0.0005416601,0.0002619258],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04939832,"threshold_uncertainty_score":0.2612464,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01210611448540622,"score_gpt":0.2603155355770476,"score_spread":0.2482094210916413,"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."}}