{"id":"W3189624264","doi":"10.1186/s13059-021-02447-3","title":"Straglr: discovering and genotyping tandem repeat expansions using whole genome long-read sequences","year":2021,"lang":"en","type":"article","venue":"Genome biology","topic":"Genomics and Phylogenetic Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":111,"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; Genome Canada","keywords":"Genotyping; Biology; Computational biology; Genome; Human genetics; Whole genome sequencing; Genetics; Trinucleotide repeat expansion; Human genome; 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":[0.003489786,0.001663157,0.001130629,0.0009678099,0.0005615007,0.0009661723,0.002189481,0.001560197,0.002866356],"category_scores_gemma":[0.005154442,0.0007195357,0.001670938,0.000811294,0.0004973642,0.001058356,0.001255466,0.001236092,0.001686431],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000574538,"about_ca_system_score_gemma":0.001015209,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003268555,"about_ca_topic_score_gemma":0.006971707,"domain_scores_codex":[0.998916,0.0003325217,0.00007343394,0.0003611769,0.0002547235,0.00006208286],"domain_scores_gemma":[0.997907,0.001301132,0.000264492,0.0002618218,0.0001541705,0.0001113769],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"simulation_or_modeling","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.002676019,0.0005554346,0.05209377,0.002585864,0.00326221,0.001507857,0.001260121,0.3301442,0.2790572,0.01012435,0.05320144,0.2635315],"study_design_scores_gemma":[0.0003337605,0.0006527805,0.01081831,0.00009364986,0.0002909892,0.0005707821,0.0001079756,0.8736699,0.08248092,0.007825582,0.02292684,0.0002285334],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.2058893,0.001618357,0.5565938,0.0006081984,0.0002987564,0.0002514028,0.01330404,0.2177115,0.003724677],"genre_scores_gemma":[0.3837514,0.000790545,0.5697532,0.0006442549,0.00007337519,0.0007120814,0.02543484,0.01597949,0.002860843],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.003489786,"threshold_uncertainty_score":0.01845598,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02496703257416895,"score_gpt":0.2674932000447482,"score_spread":0.2425261674705793,"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."}}