{"id":"W2091324958","doi":"10.1111/j.1399-0004.2011.01645.x","title":"Exome sequencing expedites disease gene discovery","year":2011,"lang":"en","type":"letter","venue":"Clinical Genetics","topic":"Lipid metabolism and disorders","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Exome sequencing; Genetics; Exome; Biology; Gene; DNA sequencing; Computational biology; Disease; Mutation; Human genetics; 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"],"consensus_categories":[],"category_scores_codex":[0.0003370327,0.0005224013,0.001125265,0.0001366971,0.00006533249,0.00006186354,0.0003912481,0.001178237,0.0003473903],"category_scores_gemma":[0.00082558,0.000430704,0.0008063506,0.0001421695,0.0004703601,0.00008283322,0.0002409346,0.002011781,0.0004184758],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004637761,"about_ca_system_score_gemma":0.0009920048,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001085238,"about_ca_topic_score_gemma":9.073739e-7,"domain_scores_codex":[0.996398,0.0001822498,0.001216082,0.0009447593,0.0005904051,0.0006684998],"domain_scores_gemma":[0.9969722,0.0004279851,0.0003377487,0.001536567,0.0001559943,0.0005695271],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001052264,0.0001478836,0.0245597,0.0003707399,0.0001684858,0.001006208,0.00006085171,0.000001421292,0.00005303756,0.000009692917,0.9716798,0.001836929],"study_design_scores_gemma":[0.001391414,0.0002279547,0.02222836,0.0001740097,0.001471719,0.00001851085,0.00002822989,0.00002176232,0.000124723,0.0007109541,0.9730013,0.0006010595],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.3698418,0.07413869,0.002293875,0.5015736,0.03602875,0.003709245,0.001167984,0.0007654738,0.01048061],"genre_scores_gemma":[0.005138897,0.01111657,0.003360799,0.901257,0.05765869,0.00006141803,0.001372309,0.000226664,0.01980767],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.3996834,"threshold_uncertainty_score":0.9998145,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.13013173176691,"score_gpt":0.3559695816672897,"score_spread":0.2258378499003797,"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."}}