{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003385509,0.0003381288,0.0004329362,0.001892301,0.0004861155,0.0007244753,0.0003333153,0.0004588311,0.01683789],"category_scores_gemma":[0.001190626,0.0002922673,0.000470465,0.003467694,0.0001616339,0.0003565275,0.0005376138,0.0005515529,0.006870624],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003379221,"about_ca_system_score_gemma":0.001270575,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.009946509,"about_ca_topic_score_gemma":0.01032858,"domain_scores_codex":[0.9998344,0.00003940325,0.00000674422,0.00005677716,0.00004169646,0.00002080826],"domain_scores_gemma":[0.9996058,0.00008730497,0.00006404996,0.00008179469,0.0001077965,0.00005316359],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0007858893,0.0002569552,0.05159049,0.0009063897,0.000578109,0.00231969,0.001416321,0.01055717,0.0414496,0.01634167,0.2490284,0.6247694],"study_design_scores_gemma":[0.0003602985,0.0003092838,0.2696807,0.0002898067,0.0002740332,0.002712244,0.0002989142,0.009895814,0.006232922,0.021353,0.6884751,0.0001178067],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"dataset","genre_gemma":"empirical","genre_scores_codex":[0.241276,0.006504268,0.3007065,0.003858024,0.0007778418,0.001281496,0.3773974,0.00664591,0.06155255],"genre_scores_gemma":[0.3879418,0.003273414,0.1680504,0.001272741,0.0004758123,0.001934952,0.3891779,0.0005579639,0.0473149],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01683789,"threshold_uncertainty_score":0.05632836,"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."}}