{"id":"W4386099973","doi":"10.1038/s41586-023-06388-8","title":"From target discovery to clinical drug development with human genetics","year":2023,"lang":"en","type":"review","venue":"Nature","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":203,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill Genome Centre; Jewish General Hospital; McGill University","funders":"","keywords":"Drug development; Biobank; Drug discovery; Disease; Orphan drug; Clinical trial; Medicine; Genomics; Precision medicine; Human genetics; Medical genetics; Computational biology; Bioinformatics; Biology; Drug; Genetics; Genome; Pharmacology; Gene; Internal medicine","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","research_integrity"],"consensus_categories":[],"category_scores_codex":[0.0001379128,0.0003770127,0.0007189121,0.00005583061,0.00008790539,0.00007200746,0.0004968775,0.001631426,0.00001072096],"category_scores_gemma":[0.00004290361,0.0002662777,0.000314557,0.0001211127,0.00003566107,0.000001316574,0.0003636488,0.0009921121,0.00007703758],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002500973,"about_ca_system_score_gemma":0.0006153594,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000005676103,"about_ca_topic_score_gemma":0.00006890952,"domain_scores_codex":[0.998285,0.00007523006,0.000452315,0.0007434157,0.0001837064,0.0002603347],"domain_scores_gemma":[0.9989988,0.00002523274,0.0001668849,0.0005598026,0.00006224592,0.0001870334],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001522524,0.0006325666,0.0008229921,0.007878725,0.005029445,0.0005267916,0.000184939,0.00003178281,0.0001428569,0.00007533904,0.3541134,0.6304089],"study_design_scores_gemma":[0.0001283133,0.00005890624,0.0001720788,0.001109671,0.0001973493,0.000003839904,0.0000133263,8.350266e-8,0.0000603561,0.00002047473,0.9978177,0.0004179206],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.006749887,0.991447,0.00002831529,0.00002620992,0.0005505261,0.0004638705,0.0006291501,0.00001818912,0.00008682288],"genre_scores_gemma":[0.0002676907,0.9845527,0.0021355,0.0004054536,0.001860623,0.00006828432,0.00706778,0.0001166974,0.00352524],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.6437043,"threshold_uncertainty_score":0.999979,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02833882160609055,"score_gpt":0.3671400709732062,"score_spread":0.3388012493671157,"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."}}