{"id":"W4411080019","doi":"10.1101/2025.06.05.25329068","title":"Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity","year":2025,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Discovery Centre","funders":"Medical Research Council; St George's University Hospitals NHS Foundation Trust; Public Health England; University of Oxford; King's College London; Novo Nordisk; National Institute for Health and Care Research; Alnylam Pharmaceuticals; Maze Therapeutics; Barts Charity; Wellcome Trust; Barts Health NHS Trust; GlaxoSmithKline; Bristol-Myers Squibb; AstraZeneca; NIHR Cambridge Biomedical Research Centre; Broad Institute; Pfizer; Queen Mary University of London","keywords":"Exome sequencing; Exome; Genealogy; History; Genetics; Biology; Mutation; Gene","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":[0.0004869874,0.0004221659,0.0003657568,0.0008362617,0.001041622,0.0007361423,0.0002807538,0.0005111485,0.004779444],"category_scores_gemma":[0.001141481,0.0002784982,0.0003377322,0.001628739,0.0003831296,0.0001246503,0.0008532684,0.000394961,0.00123284],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003345167,"about_ca_system_score_gemma":0.0005223672,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.05292693,"about_ca_topic_score_gemma":0.06394514,"domain_scores_codex":[0.9997246,0.00004971402,0.00002443958,0.000101781,0.00004755286,0.00005195185],"domain_scores_gemma":[0.9995856,0.00009523803,0.00004505794,0.00008992181,0.00009178827,0.00009248577],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002556743,0.0001660236,0.8301113,0.0004091602,0.0006714792,0.007952964,0.006636442,0.0005459556,0.09215387,0.00064915,0.0156948,0.04245212],"study_design_scores_gemma":[0.0001226122,0.0001067016,0.9761245,0.00008163544,0.0001763199,0.003024749,0.001288707,0.0003076353,0.002395499,0.0002790873,0.0160643,0.00002833973],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9871732,0.0005164313,0.0008196922,0.000176599,0.00001215258,0.0000351446,0.009838709,0.00002623182,0.001401762],"genre_scores_gemma":[0.9758117,0.0006494726,0.001939833,0.0005026102,0.00002082077,0.0001025401,0.01482035,0.00008453953,0.006068184],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05292693,"threshold_uncertainty_score":0.1052377,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01301358738824052,"score_gpt":0.2351732557847011,"score_spread":0.2221596683964606,"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."}}