{"id":"W4313214635","doi":"10.1016/j.xgen.2022.100233","title":"Parent-of-origin detection and chromosome-scale haplotyping using long-read DNA methylation sequencing and Strand-seq","year":2022,"lang":"en","type":"article","venue":"Cell Genomics","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":33,"is_retracted":false,"has_abstract":true,"ca_institutions":"Terry Fox Research Institute; Canada's Michael Smith Genome Sciences Centre; University of British Columbia","funders":"","keywords":"Autosome; Biology; Genetics; Haplotype; DNA methylation; Indel; DNA sequencing; Human genome; Allele; Chromosome; Genome; DNA; Gene; Genotype; Single-nucleotide polymorphism","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":[0.0005551708,0.0003664229,0.000337453,0.0005122818,0.000316723,0.0004373874,0.0003784173,0.0005162073,0.00135229],"category_scores_gemma":[0.0009804729,0.0003017195,0.0003836548,0.000347763,0.000301044,0.0002443106,0.0005964137,0.0005889935,0.0005583644],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003017836,"about_ca_system_score_gemma":0.0003152896,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00154096,"about_ca_topic_score_gemma":0.006923826,"domain_scores_codex":[0.9995503,0.00005338738,0.0000284279,0.0002016539,0.0001278664,0.00003827647],"domain_scores_gemma":[0.9994099,0.0001936039,0.0001395745,0.0001108951,0.00009015603,0.00005572769],"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":[0.00007456752,0.00001315344,0.008103126,0.00006308163,0.00004439901,0.0000733433,0.00009313619,0.0006268108,0.981399,0.0003491646,0.0001342914,0.009025955],"study_design_scores_gemma":[0.00001817313,0.0001167566,0.04836078,0.0000220681,0.00007083957,0.0006010222,0.00009134474,0.02465208,0.9182304,0.001072958,0.006714761,0.00004884997],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7207198,0.0007663037,0.2662858,0.0001269528,0.00009669178,0.0002316054,0.007066634,0.001658633,0.003047505],"genre_scores_gemma":[0.7342213,0.0004075739,0.2566358,0.0002176714,0.00002167518,0.0002349882,0.004707266,0.0003999282,0.003153743],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00154096,"threshold_uncertainty_score":0.004523814,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0227371679962748,"score_gpt":0.2406285228433502,"score_spread":0.2178913548470754,"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."}}