{"id":"W2890516196","doi":"10.1016/j.fertnstert.2018.07.1201","title":"The first report of comprehensive preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) using long read sequencing","year":2018,"lang":"en","type":"article","venue":"Fertility and Sterility","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Ontario Institute for Cancer Research; CReATe Fertility Centre","funders":"","keywords":"Biology; Minion; Nanopore sequencing; DNA sequencing; Genetics; Deep sequencing; Karyotype; Breakpoint; Computational biology; Chromosome; Genome; DNA; Gene","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":[0.0005060992,0.0009565231,0.0005025276,0.001611482,0.0007756797,0.0008672457,0.001103004,0.00389629,0.002619238],"category_scores_gemma":[0.006115024,0.0004953642,0.0008918929,0.0003359275,0.0009117889,0.0007101156,0.001271535,0.002034947,0.001141448],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004768869,"about_ca_system_score_gemma":0.0008598812,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002158604,"about_ca_topic_score_gemma":0.003473981,"domain_scores_codex":[0.9993376,0.00008234582,0.00007729384,0.0001958267,0.00014765,0.0001592391],"domain_scores_gemma":[0.9963229,0.001632974,0.0003650018,0.0004035418,0.0004798624,0.0007958318],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0002853638,0.0002523959,0.07907714,0.0003383788,0.0001518244,0.8108169,0.001010097,0.000408804,0.03013854,0.002310746,0.02271754,0.0524922],"study_design_scores_gemma":[0.00002686053,0.0004777608,0.02571596,0.0001155681,0.000135372,0.9288053,0.0003408341,0.0006954675,0.01169616,0.001135065,0.03079944,0.00005627071],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8756812,0.01042408,0.0304662,0.02870407,0.004758431,0.0004729293,0.004579792,0.0009747868,0.04393857],"genre_scores_gemma":[0.9680845,0.002887481,0.01136316,0.006523076,0.001940791,0.00008209665,0.002226747,0.0001847094,0.006707451],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00389629,"threshold_uncertainty_score":0.00876224,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09687067946961403,"score_gpt":0.3326074388003684,"score_spread":0.2357367593307543,"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."}}