{"id":"W1979984878","doi":"10.1503/cmaj.141509","title":"Old meets new: identifying founder mutations in genetic disease","year":2015,"lang":"en","type":"letter","venue":"Canadian Medical Association Journal","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba","funders":"","keywords":"Genealogy; Medicine; Computer science; History","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"about_ca":true,"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":[0.002746008,0.0006078787,0.001190203,0.002500754,0.001946278,0.002162954,0.001209205,0.009346631,0.0112822],"category_scores_gemma":[0.01233254,0.0005269503,0.0005212471,0.001077579,0.002459972,0.003998491,0.001029025,0.01202041,0.008137673],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002222034,"about_ca_system_score_gemma":0.001106412,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004916301,"about_ca_topic_score_gemma":0.009275831,"domain_scores_codex":[0.997951,0.0007332904,0.0002685276,0.0002513484,0.0005987163,0.000197119],"domain_scores_gemma":[0.9953112,0.003086083,0.0002475445,0.0001691374,0.0005869113,0.0005991599],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003239408,0.0001102989,0.0185449,0.0002117205,0.00007516196,0.04287432,0.0003634609,0.0001729192,0.001939743,0.004897024,0.8095649,0.1209216],"study_design_scores_gemma":[0.0003120032,0.0005171616,0.0506021,0.00311875,0.0002842369,0.2012297,0.002264415,0.002043311,0.00154198,0.05846151,0.6794161,0.0002087948],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.008035729,0.02646095,0.001092044,0.9136789,0.01666598,0.00006319291,0.0002316538,0.0001608433,0.0336106],"genre_scores_gemma":[0.09953094,0.05451811,0.003823508,0.6016152,0.2072648,0.00009167071,0.0002788759,0.0001728078,0.03270418],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.0112822,"threshold_uncertainty_score":0.03774273,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0124860684084272,"score_gpt":0.2480935915416668,"score_spread":0.2356075231332396,"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."}}