{"id":"W2044274781","doi":"10.1371/journal.pone.0100371","title":"Novel Population Specific Autosomal Copy Number Variation and Its Functional Analysis amongst Negritos from Peninsular Malaysia","year":2014,"lang":"en","type":"article","venue":"PLoS ONE","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Ontario Genomics; Toronto Centre for Phenogenomics; Hospital for Sick Children; University of Toronto","funders":"Hospital for Sick Children; Ministério da Ciência, Tecnologia e Inovação; Medical University of South Carolina; Kementerian Sains, Teknologi dan Inovasi; Canadian Institutes of Health Research; Sick Kids Foundation; University of Toronto; GlaxoSmithKline","keywords":"Copy-number variation; Biology; Genetics; Genome; Population; 1000 Genomes Project; Genome-wide association study; Human genome; Gene; Evolutionary biology; Phenotype; Single-nucleotide polymorphism; Genotype; Medicine","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":[0.0001643987,0.0002204375,0.0001982745,0.001055125,0.0002592618,0.0004058126,0.0002419291,0.0002092134,0.0008136833],"category_scores_gemma":[0.0004905318,0.0001157417,0.0002170753,0.0007871606,0.0002326737,0.00013282,0.0003115486,0.0001618505,0.00010725],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001963777,"about_ca_system_score_gemma":0.0002008817,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004559125,"about_ca_topic_score_gemma":0.00647222,"domain_scores_codex":[0.9997873,0.00002521785,0.00002121349,0.0001051255,0.0000365698,0.00002460269],"domain_scores_gemma":[0.9997579,0.00005315181,0.0001017489,0.00002356958,0.00003358754,0.00002998733],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002530264,0.00003798682,0.9270911,0.00008699517,0.0001424634,0.001868121,0.001610777,0.0002269114,0.05416678,0.000138526,0.0001516021,0.0142257],"study_design_scores_gemma":[0.000003472684,0.00005441743,0.9941187,0.000009170838,0.00005084389,0.002819136,0.0004324376,0.0002997975,0.001627974,0.00006726554,0.0005073891,0.000009382724],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999215,0.000119815,0.0002173753,0.0000116377,0.000001227652,0.000005498087,0.0002703603,0.000003968956,0.000155059],"genre_scores_gemma":[0.9989824,0.0001094568,0.0003372825,0.00001180953,0.000001897207,0.000009771776,0.0003120127,0.000003143555,0.0002321932],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004559125,"threshold_uncertainty_score":0.009065211,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01772419605409173,"score_gpt":0.1916793729670249,"score_spread":0.1739551769129332,"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."}}