{"id":"W4407957525","doi":"10.1038/s41586-025-08623-w","title":"Rare disease gene association discovery in the 100,000 GenomesProject","year":2025,"lang":"en","type":"article","venue":"Nature","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; McGill University; Centre Hospitalier Universitaire Sainte-Justine","funders":"National Institute of Child Health and Human Development; Medical Research Council; Grantová Agentura České Republiky; Manchester Biomedical Research Centre; University College London Hospitals NHS Foundation Trust; NIHR Imperial Biomedical Research Centre; Michael J. Fox Foundation for Parkinson's Research; Department of Health and Social Care; National Institutes of Health; Cancer Research UK; Wellcome Trust; National Institute for Health and Care Research","keywords":"Disease; Genome-wide association study; Genetic association; Biology; Genetics; In silico; Genome; Gene; Mendelian inheritance; Computational biology; Genomics; Bioinformatics; Medicine; Single-nucleotide polymorphism; Genotype; Pathology","routes":{"ca_aff":true,"ca_fund":false,"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":[0.01352065,0.001200145,0.002383907,0.004696631,0.0008660462,0.00283533,0.001424527,0.001524094,0.005950485],"category_scores_gemma":[0.03202383,0.0006101066,0.001683045,0.006374772,0.0005594227,0.0008097027,0.003671652,0.001544327,0.001239042],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007982753,"about_ca_system_score_gemma":0.0027028,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004610528,"about_ca_topic_score_gemma":0.009081423,"domain_scores_codex":[0.9924717,0.003004293,0.0006148357,0.002020358,0.00160033,0.0002884559],"domain_scores_gemma":[0.9803176,0.01323338,0.002170908,0.002001509,0.001022035,0.001254432],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003511731,0.0002917604,0.3525486,0.0102925,0.01478692,0.006122091,0.001072753,0.01373546,0.02713161,0.02283582,0.2041717,0.343499],"study_design_scores_gemma":[0.001554263,0.0006355555,0.4183019,0.002793467,0.008071272,0.008933025,0.0004641707,0.02109826,0.008479005,0.07135653,0.457996,0.0003164853],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"dataset","genre_gemma":"empirical","genre_scores_codex":[0.3633121,0.08560129,0.1200308,0.01762766,0.002647493,0.001030034,0.3896554,0.005555421,0.01453985],"genre_scores_gemma":[0.4975944,0.01998671,0.1654503,0.00674212,0.0009267967,0.001523409,0.303147,0.001332051,0.003297155],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01352065,"threshold_uncertainty_score":0.07150495,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003213924056875747,"score_gpt":0.2436849654928298,"score_spread":0.240471041435954,"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."}}