{"id":"W4399564381","doi":"10.1038/s41598-024-64169-3","title":"Variant ranking pipeline for complex familial disorders","year":2024,"lang":"en","type":"article","venue":"Scientific Reports","topic":"vaccines and immunoinformatics approaches","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canada's Michael Smith Genome Sciences Centre; Simon Fraser University","funders":"Medical Research Council; Leids Universitair Medisch Centrum; Wellcome Trust; Academy of Medical Sciences; Canadian Institutes of Health Research; Canada's Michael Smith Genome Sciences Centre; Universiteit Leiden; Cancer Research UK","keywords":"Pedigree chart; Genetics; Biology; Genome; Population; Allele; Gene; Computational biology; Medicine","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":[0.00293207,0.0020243,0.001306101,0.005031237,0.0008723023,0.002227388,0.001792955,0.001033131,0.04127713],"category_scores_gemma":[0.01254534,0.0007993958,0.00226364,0.002843602,0.0003078587,0.001139597,0.002055082,0.001424881,0.01176766],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009517727,"about_ca_system_score_gemma":0.002217011,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005758778,"about_ca_topic_score_gemma":0.01178459,"domain_scores_codex":[0.9988593,0.0002085925,0.0001285394,0.0003689065,0.0003047402,0.0001300697],"domain_scores_gemma":[0.9971797,0.001568882,0.0002517731,0.0003697383,0.0004742024,0.0001556934],"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":[0.00163211,0.0002102534,0.02931023,0.002477056,0.001376855,0.00205956,0.0004821916,0.01795099,0.01809351,0.01375723,0.3892184,0.5234316],"study_design_scores_gemma":[0.001998183,0.0006261161,0.05237775,0.0004748413,0.001210294,0.005552742,0.0004686107,0.3599744,0.04271658,0.1157815,0.4183531,0.0004659374],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.03017926,0.002431361,0.561107,0.001605251,0.00064169,0.001079069,0.1585984,0.2342778,0.0100801],"genre_scores_gemma":[0.1241356,0.001532598,0.6106029,0.001079215,0.0003332461,0.001561244,0.2349809,0.01612869,0.00964565],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.04127713,"threshold_uncertainty_score":0.1380858,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01784432196007603,"score_gpt":0.2569089023446475,"score_spread":0.2390645803845715,"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."}}