{"id":"W4403053527","doi":"10.1101/gr.279273.124","title":"High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation","year":2024,"lang":"en","type":"article","venue":"Genome Research","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":77,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canadian Bulletin of Medical History","funders":"National Institute of Allergy and Infectious Diseases; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; National Human Genome Research Institute; National Institute on Drug Abuse; National Institute on Aging; Fonds Wetenschappelijk Onderzoek; National Institute of Standards and Technology; Lustgarten Foundation; National Cancer Institute; National Institutes of Health; National Science Foundation","keywords":"Biology; Indel; 1000 Genomes Project; Structural variation; Genome; Computational biology; Genetics; Concordance; Human genome; Whole genome sequencing; Personal genomics; DNA sequencing; Nanopore sequencing; Copy-number variation; Single-nucleotide polymorphism; Gene; Genotype","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":[0.0006411267,0.000397009,0.0003751061,0.001163443,0.0004705644,0.000633669,0.0002722956,0.0004389353,0.00167226],"category_scores_gemma":[0.001805162,0.0001679797,0.0004269659,0.001282352,0.0002355013,0.0002057864,0.0006112084,0.000530664,0.0005354318],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003259991,"about_ca_system_score_gemma":0.0003116903,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0051499,"about_ca_topic_score_gemma":0.01006136,"domain_scores_codex":[0.9994557,0.00008805616,0.00004494789,0.0001866474,0.0001747152,0.00004991841],"domain_scores_gemma":[0.9994172,0.0001836317,0.00007184307,0.0001092363,0.0001525249,0.0000655735],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0006723689,0.0001598534,0.191272,0.0003992048,0.0006633225,0.0005203698,0.001438218,0.005162739,0.7298048,0.001287811,0.005397458,0.06322195],"study_design_scores_gemma":[0.00005509647,0.0004009884,0.8182838,0.0001122944,0.0003270413,0.001604962,0.0005882828,0.01603117,0.1159254,0.002618319,0.04399493,0.00005764965],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.937016,0.001290423,0.03626977,0.0002890409,0.00003794525,0.0001735534,0.02139545,0.0004324234,0.003095513],"genre_scores_gemma":[0.8812726,0.0008166757,0.06204537,0.0006295056,0.0000376294,0.0004147237,0.05162876,0.0003085688,0.002846156],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0051499,"threshold_uncertainty_score":0.01023984,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06116980272795516,"score_gpt":0.3402952870025182,"score_spread":0.2791254842745631,"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."}}