{"id":"W2021348305","doi":"10.1186/1471-2156-11-39","title":"How old is this mutation? - a study of three Ashkenazi Jewish founder mutations","year":2010,"lang":"en","type":"article","venue":"BMC Genetics","topic":"Cancer Genomics and Diagnostics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Jewish General Hospital; McGill University Health Centre; Western University; Actua; Hospital for Sick Children; Public Health Ontario; University of Toronto","funders":"Mitacs; Ontario Genomics; Ontario Genomics Institute; Genome Canada","keywords":"Founder effect; Judaism; Genetics; Mutation; Genealogy; History; Biology; Haplotype; Gene; Genotype; Archaeology","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":[0.001874375,0.0008016736,0.0008528206,0.001771211,0.003601595,0.0009458736,0.0006656836,0.0015446,0.001093835],"category_scores_gemma":[0.002281619,0.0004769051,0.001267589,0.002068078,0.00101124,0.000480496,0.0008638148,0.001063697,0.0003962298],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001618654,"about_ca_system_score_gemma":0.0009993879,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.04097776,"about_ca_topic_score_gemma":0.05328136,"domain_scores_codex":[0.9991553,0.0002001349,0.00008177225,0.0001948568,0.0002073514,0.0001605489],"domain_scores_gemma":[0.9984479,0.0004305294,0.0003143654,0.000196008,0.0002905309,0.0003206653],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006007852,0.000992623,0.9774246,0.00005465725,0.0001795279,0.003319591,0.005178627,0.0000643177,0.003577067,0.00007723073,0.0003260185,0.008204901],"study_design_scores_gemma":[0.00007036977,0.0009333929,0.9899852,0.0000211765,0.0002393812,0.004104292,0.002598718,0.0002861889,0.0005425317,0.00007117414,0.001120173,0.00002730298],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995188,0.0001399314,0.00007348435,0.00002738341,0.000002581232,0.00002646961,0.0001001033,0.000002600324,0.00010863],"genre_scores_gemma":[0.9984517,0.0001989608,0.0003703068,0.0001607251,0.00001329576,0.00003730735,0.0004600226,0.000006098963,0.0003014628],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04097776,"threshold_uncertainty_score":0.08147854,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01993075267995886,"score_gpt":0.2647984794280124,"score_spread":0.2448677267480535,"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."}}