{"id":"W4281734642","doi":"10.1038/s41598-022-13024-4","title":"Linked-read sequencing for detecting short tandem repeat expansions","year":2022,"lang":"en","type":"article","venue":"Scientific Reports","topic":"Genomics and Phylogenetic Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia; Canada's Michael Smith Genome Sciences Centre","funders":"Canadian Institutes of Health Research; Genome British Columbia; Canada's Michael Smith Genome Sciences Centre; Compute Canada; Genome Canada","keywords":"Genotyping; Barcode; Computer science; Microsatellite; Computational biology; Genetics; Biology; Genotype; Gene","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":[0.001737466,0.0008403271,0.0005262132,0.001061538,0.0003186065,0.0007374675,0.0007807825,0.001313233,0.001590866],"category_scores_gemma":[0.006099551,0.000410772,0.0006283374,0.0008484562,0.0003861311,0.0008557771,0.0006637106,0.001060727,0.001623195],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000423198,"about_ca_system_score_gemma":0.0006101058,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000932289,"about_ca_topic_score_gemma":0.002890827,"domain_scores_codex":[0.997964,0.0006980548,0.000103946,0.0005443771,0.0006171002,0.00007249279],"domain_scores_gemma":[0.9974114,0.001200319,0.0005333259,0.0003312494,0.0004232924,0.0001005042],"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":[0.0003102524,0.0001766085,0.005946008,0.0005134234,0.0001698123,0.0001964527,0.0002113628,0.01294652,0.8747794,0.004064115,0.0007476513,0.09993845],"study_design_scores_gemma":[0.00005302425,0.0006068762,0.008081148,0.00007354924,0.0001207788,0.0005118639,0.00008028176,0.2245606,0.7511427,0.00336557,0.01127238,0.0001312723],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.158425,0.001546321,0.8328111,0.000108584,0.000101716,0.0002492415,0.001074321,0.003243143,0.002440589],"genre_scores_gemma":[0.2413387,0.0005033125,0.7540346,0.0002517423,0.00003019541,0.0001996991,0.001628122,0.0002650714,0.00174854],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.001737466,"threshold_uncertainty_score":0.009188652,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03041130632499694,"score_gpt":0.2670738443167042,"score_spread":0.2366625379917073,"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."}}