{"id":"W4300681181","doi":"10.17615/8hpm-qe97","title":"A second generation human haplotype map of over 3.1 million SNPs","year":2019,"lang":"en","type":"article","venue":"Carolina Digital Repository (University of North Carolina at Chapel Hill)","topic":"Nutrition, Genetics, and Disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Biomedical Imaging and Bioengineering; National Institute of Dental and Craniofacial Research; National Institute of Environmental Health Sciences; National Institute of Neurological Disorders and Stroke; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institute of Diabetes and Digestive and Kidney Diseases; National Center for Research Resources; National Institute of Allergy and Infectious Diseases; National Institute of General Medical Sciences; National Institute of Mental Health; National Cancer Institute; National Eye Institute; National Institute on Alcohol Abuse and Alcoholism; W. M. Keck Foundation; National Institute on Deafness and Other Communication Disorders; National Institute on Drug Abuse; Engineering and Physical Sciences Research Council; National Institutes of Health; Ministry of Education, Culture, Sports, Science and Technology; Ministry of Science and Technology of the People's Republic of China; National Natural Science Foundation of China; Beijing Normal University; Chinese Academy of Sciences; University Grants Committee; National Institute on Aging; Innovation and Technology Commission; National Human Genome Research Institute; Wellcome Trust; Genome Canada","keywords":"Haplotype; Single-nucleotide polymorphism; Genetics; Haplotype estimation; Biology; Computational biology; Genealogy; Evolutionary biology; Gene; History; Allele; Genotype","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0000505245,0.000209448,0.0002853624,0.0000902027,0.000163998,0.00001212426,0.0002529953,0.000181822,0.00005618418],"category_scores_gemma":[0.0000106193,0.0002668165,0.0002994732,0.00008445393,0.0002051539,0.00003666282,0.0002118708,0.00007402056,0.0000215505],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006089031,"about_ca_system_score_gemma":0.0000915646,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003199559,"about_ca_topic_score_gemma":0.0002574502,"domain_scores_codex":[0.998736,0.00004560255,0.0002585106,0.0004806817,0.00025437,0.0002248674],"domain_scores_gemma":[0.9986829,0.000009763988,0.0002754072,0.000532323,0.0003138053,0.0001857605],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000348361,0.0002064358,0.5122606,0.0002448458,0.0001087804,0.00002506593,0.0001552453,0.0001549094,0.4838574,0.00003925586,0.002307615,0.0002914639],"study_design_scores_gemma":[0.003323896,0.001293248,0.8680919,0.00005315072,0.0001652797,0.0000545579,0.0001627745,0.0003952554,0.09978127,0.00006705453,0.02590117,0.0007104352],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957054,0.0007958033,0.00004002209,0.0000145946,0.0003107161,0.0002715358,0.0002543702,0.00001679836,0.002590803],"genre_scores_gemma":[0.9927109,0.00006484965,0.00004317324,0.00003131691,0.0002471916,6.85873e-7,0.0007337927,0.00002592671,0.006142191],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3840761,"threshold_uncertainty_score":0.9999784,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006230819647095097,"score_gpt":0.1820984869487522,"score_spread":0.1758676673016571,"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."}}