{"id":"W4290986010","doi":"10.1186/s13073-022-01085-z","title":"REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats","year":2022,"lang":"en","type":"article","venue":"Genome Medicine","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":55,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"National Human Genome Research Institute","keywords":"Tandem repeat; Haplotype; Visualization; Genome; Computational biology; Reference genome; Computer science; Genetics; Concordance; Biology; Genotype; Artificial intelligence","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":[0.01090687,0.002535591,0.001915678,0.00377781,0.001606451,0.003468672,0.005194254,0.003461056,0.1698111],"category_scores_gemma":[0.06859141,0.001167687,0.001525847,0.001850279,0.0007930592,0.003563005,0.003454027,0.002443007,0.05223808],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008371721,"about_ca_system_score_gemma":0.003129571,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002021789,"about_ca_topic_score_gemma":0.003209671,"domain_scores_codex":[0.9945896,0.001912714,0.0008947442,0.000755907,0.001467845,0.0003793635],"domain_scores_gemma":[0.9302281,0.02288669,0.002033408,0.007535658,0.03366002,0.003656138],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0009711516,0.000155882,0.003396376,0.002129972,0.0001144208,0.0008120054,0.001229095,0.0008694809,0.01295221,0.001762491,0.8905481,0.08505873],"study_design_scores_gemma":[0.001002749,0.0004759445,0.009921801,0.001730442,0.0001968142,0.001539829,0.0009967537,0.05456603,0.0586257,0.005679606,0.8646542,0.0006102198],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"methods","genre_gemma":"software","genre_scores_codex":[0.0163005,0.0006548025,0.5222207,0.006330878,0.008894597,0.0045857,0.04858737,0.3672099,0.02521561],"genre_scores_gemma":[0.08451214,0.0005822162,0.6896681,0.003357036,0.001657099,0.006819605,0.03762173,0.1293758,0.04640628],"genre_candidate":"software","genre_consensus":null,"teacher_disagreement_score":0.1698111,"threshold_uncertainty_score":0.5680748,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04608918944738547,"score_gpt":0.3077791021959601,"score_spread":0.2616899127485746,"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."}}