{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007364015,0.0001134627,0.000102679,0.00006071329,0.0001965425,0.0002944607,0.0001058647,0.00006235037,0.00003030702],"category_scores_gemma":[0.0000763659,0.00009417903,0.0001400317,0.0001374924,0.00006294084,0.000008637734,0.0000805098,0.00004360508,0.000008353846],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008181939,"about_ca_system_score_gemma":0.00009790913,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007818132,"about_ca_topic_score_gemma":0.00001560875,"domain_scores_codex":[0.9988698,0.000008972928,0.0003444051,0.0004129154,0.000138694,0.000225161],"domain_scores_gemma":[0.9993691,0.000007967706,0.00006801302,0.0004510038,0.00006163043,0.00004232256],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00004461101,0.0000776692,0.0001876509,0.0002758364,0.00009469605,0.00002806065,0.000343441,0.0004015784,0.6819494,0.000751984,0.2709098,0.04493525],"study_design_scores_gemma":[0.000174347,0.00004775676,0.00009245273,0.00002343183,0.00002547104,0.0001535615,0.0001058156,0.03564333,0.0164973,0.004069517,0.942975,0.0001920364],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.4939466,0.004956715,0.4500449,0.001260133,0.03027474,0.002087025,0.00006807069,0.0001764508,0.01718529],"genre_scores_gemma":[0.9901495,0.00002627934,0.00286106,0.00004796464,0.0002561837,0.00004048254,0.0008389099,0.00001917532,0.005760436],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6720651,"threshold_uncertainty_score":0.3840509,"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."}}