{"id":"W2142642738","doi":"10.1371/journal.pbio.0050254","title":"The Diploid Genome Sequence of an Individual Human","year":2007,"lang":"en","type":"article","venue":"PLoS Biology","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1820,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Hospital for Sick Children; Canadian Institutes of Health Research; Sick Kids Foundation; Genome Canada; Ontario Genomics; Ontario Genomics Institute; Canadian Institute for Advanced Research","keywords":"Indel; Biology; Genome; Genetics; Reference genome; Human genome; Ploidy; Sanger sequencing; Whole genome sequencing; Copy-number variation; Structural variation; DNA sequencing; Haplotype; SNP array; Single-nucleotide polymorphism; Gene; Allele; Genotype","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001989607,0.0002222046,0.000418958,0.0007985853,0.0002981369,0.0004341363,0.0002142881,0.0003231283,0.01000157],"category_scores_gemma":[0.000544032,0.0001684576,0.0002310881,0.001561055,0.0001544234,0.000276638,0.000244629,0.000364783,0.006075089],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003087631,"about_ca_system_score_gemma":0.0007137709,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003402005,"about_ca_topic_score_gemma":0.00326515,"domain_scores_codex":[0.9998765,0.00002052536,0.00001660511,0.00004851177,0.00002879669,0.000008980608],"domain_scores_gemma":[0.9998193,0.00004580353,0.00002001397,0.00004355329,0.00004500907,0.00002627101],"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":[0.001911402,0.0001066323,0.01176419,0.002169526,0.0001621792,0.004109622,0.001672363,0.004452444,0.5716992,0.01429679,0.1026969,0.2849587],"study_design_scores_gemma":[0.0001716733,0.000483445,0.05190855,0.0003326561,0.0002291999,0.005066016,0.0005680147,0.005587804,0.05327127,0.007302491,0.8749537,0.0001251674],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"dataset","genre_gemma":"empirical","genre_scores_codex":[0.2843953,0.006875765,0.1281676,0.001302242,0.0009651697,0.0004543407,0.531087,0.003302346,0.0434503],"genre_scores_gemma":[0.244385,0.006143671,0.1584096,0.0004695603,0.0001277791,0.0003994517,0.5673332,0.0005019704,0.02222979],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01000157,"threshold_uncertainty_score":0.03345859,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0271396125676222,"score_gpt":0.2830410985439628,"score_spread":0.2559014859763406,"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."}}