{"id":"W4385953318","doi":"10.1101/2023.08.14.553248","title":"A Weights-based variant ranking pipeline for familial complex disorders","year":2023,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genomics and Chromatin Dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"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; Universiteit Leiden; Canada's Michael Smith Genome Sciences Centre","keywords":"Pedigree chart; Genetics; Biology; Genome; Gene; Computational biology; Population; 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":[0.002786751,0.001867338,0.001016381,0.004954481,0.0007956514,0.001917578,0.001666225,0.0008469993,0.01923148],"category_scores_gemma":[0.01047237,0.0007992355,0.001640888,0.002339732,0.0003356708,0.0009878823,0.001994457,0.00131089,0.006213529],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009049002,"about_ca_system_score_gemma":0.001638366,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006250789,"about_ca_topic_score_gemma":0.01088283,"domain_scores_codex":[0.9988061,0.0002326751,0.0001059068,0.0003244886,0.0004173866,0.0001134919],"domain_scores_gemma":[0.9975018,0.00123557,0.0002378339,0.0003514616,0.0005010405,0.000172291],"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":[0.001149541,0.0002693351,0.02306508,0.001051188,0.0009912481,0.001471831,0.0003878307,0.0381554,0.03217038,0.01659068,0.2432211,0.6414765],"study_design_scores_gemma":[0.000743826,0.0002391418,0.0177123,0.0001485882,0.0003428928,0.001544917,0.0002261318,0.7414001,0.03332397,0.09619823,0.1078952,0.0002247513],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.03065341,0.0008768815,0.7974605,0.0009153079,0.0003101982,0.0006283695,0.03279197,0.1323028,0.004060597],"genre_scores_gemma":[0.1563842,0.0005723601,0.7665591,0.0004706077,0.0002121693,0.0007155115,0.05921344,0.01004918,0.005823467],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.01923148,"threshold_uncertainty_score":0.06433564,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01568942081684169,"score_gpt":0.2297983770657276,"score_spread":0.2141089562488859,"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."}}