{"id":"W2412542254","doi":"10.6084/m9.figshare.3409369.v1","title":"Computational methods for predicting and validating the causes of Mendelian disease","year":2016,"lang":"en","type":"dissertation","venue":"Figshare","topic":"Genetics, Bioinformatics, and Biomedical Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Mendelian inheritance; Disease; Computational biology; Computer science; Biology; Genetics; Medicine; Internal medicine; Gene","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.005878474,0.001049334,0.001107071,0.002213547,0.00097525,0.002087629,0.002790258,0.001991517,0.006845292],"category_scores_gemma":[0.02382896,0.0009759654,0.002189774,0.001403727,0.001229264,0.001480292,0.002808916,0.003081041,0.001686633],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001180708,"about_ca_system_score_gemma":0.002535742,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007585791,"about_ca_topic_score_gemma":0.01393599,"domain_scores_codex":[0.9984016,0.0008140237,0.000122633,0.0002733678,0.0002845179,0.0001038833],"domain_scores_gemma":[0.9891545,0.008825052,0.0003445147,0.0009206564,0.0004591545,0.0002960282],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"simulation_or_modeling","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.0005052502,0.0003121772,0.01566182,0.0007129066,0.001152474,0.000255382,0.000240211,0.5805175,0.001552847,0.04793369,0.0601809,0.2909747],"study_design_scores_gemma":[0.00009060776,0.00003505949,0.001009569,0.0000732113,0.00009243088,0.00005674536,0.0000481127,0.9026349,0.0005278825,0.09221027,0.003203246,0.00001808047],"study_design_candidate":"simulation_or_modeling","study_design_consensus":"simulation_or_modeling","genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.04043382,0.004302431,0.9228334,0.007450808,0.0007248449,0.0003047638,0.00645847,0.008121018,0.009370538],"genre_scores_gemma":[0.3030131,0.001863525,0.6756558,0.001894384,0.0004971483,0.0005857769,0.01132707,0.0009338064,0.004229432],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.007585791,"threshold_uncertainty_score":0.03108871,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04964079318298983,"score_gpt":0.3923982565828148,"score_spread":0.342757463399825,"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."}}