{"id":"W2955479321","doi":"10.1016/j.ajhg.2019.05.007","title":"Fast and Accurate Shared Segment Detection and Relatedness Estimation in Un-phased Genetic Data via TRUFFLE","year":2019,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Gene expression and cancer classification","field":"Biochemistry, Genetics and Molecular Biology","cited_by":54,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; Lunenfeld-Tanenbaum Research Institute; Public Health Ontario; University of Toronto; Mount Sinai Hospital","funders":"Natural Sciences and Engineering Research Council of Canada; Canadian Institutes of Health Research","keywords":"Truffle; Estimation; Biology; Computer science; Evolutionary biology; Engineering; Paleontology","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":[0.002587272,0.001310786,0.001500419,0.003179312,0.001032534,0.001351685,0.002308657,0.001508175,0.003139805],"category_scores_gemma":[0.01051836,0.0008072632,0.001105616,0.002118346,0.0005841856,0.001821002,0.002442998,0.002017522,0.004450722],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003201719,"about_ca_system_score_gemma":0.00137803,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003420184,"about_ca_topic_score_gemma":0.009555017,"domain_scores_codex":[0.9978994,0.0005495516,0.0001315088,0.0007845036,0.0004491872,0.0001859036],"domain_scores_gemma":[0.9946294,0.003130792,0.000382348,0.001134436,0.0005210744,0.0002018914],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.0008906603,0.0003338085,0.01914898,0.0003449257,0.0003385062,0.0005299162,0.0003752709,0.03000093,0.06923172,0.004314549,0.01806162,0.8564292],"study_design_scores_gemma":[0.0001940015,0.000320691,0.01154011,0.0000689384,0.000126168,0.0009498373,0.0002114811,0.9110569,0.03463389,0.02774548,0.01303075,0.0001218176],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.06361908,0.0008119717,0.9145431,0.0002181344,0.00008881578,0.0001027194,0.002565425,0.0172305,0.000820277],"genre_scores_gemma":[0.2151225,0.000225229,0.7674462,0.0002343474,0.0001188267,0.0002244086,0.01321876,0.00111074,0.002298988],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.003420184,"threshold_uncertainty_score":0.01368296,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0169349038129096,"score_gpt":0.2897475077640316,"score_spread":0.2728126039511219,"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."}}