{"id":"W3165910847","doi":"10.14740/jh826","title":"A Case Series of <i>TERC</i> Variant Telomere Biology Disorders in Unrelated Families From Atlantic Canada","year":2021,"lang":"en","type":"article","venue":"Journal of Hematology","topic":"Telomeres, Telomerase, and Senescence","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Capital District Health Authority; Queen Elizabeth II Health Sciences Centre","funders":"","keywords":"Germline; Telomerase; Telomerase RNA component; Telomere; Dyskeratosis congenita; Genetics; Biology; Phenotype; Gene; Telomerase reverse transcriptase","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"about_ca":true,"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":[0.0002260584,0.001162884,0.0005334332,0.002144167,0.004799766,0.001448717,0.001179104,0.001739839,0.00346948],"category_scores_gemma":[0.002375903,0.0004780331,0.0006472761,0.002269427,0.001641808,0.0006295335,0.001361059,0.001643842,0.000546571],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.005223321,"about_ca_system_score_gemma":0.005710647,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.3693023,"about_ca_topic_score_gemma":0.4111074,"domain_scores_codex":[0.9993231,0.00003997557,0.00008773727,0.0001565925,0.000138996,0.0002536613],"domain_scores_gemma":[0.9983532,0.0003507028,0.0003389144,0.00009986844,0.0002592419,0.0005980483],"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":[0.0000266966,0.0000251425,0.02926266,0.00002508961,0.00001884918,0.9636434,0.000839147,0.0000959221,0.001200376,0.0005180359,0.001170235,0.003174543],"study_design_scores_gemma":[0.000009890185,0.00001268804,0.01869991,0.00003443671,0.00002554884,0.9781551,0.0008485177,0.0001535538,0.0002669743,0.0002106883,0.001566171,0.0000165808],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9666944,0.00300393,0.001481107,0.00322967,0.0003375652,0.0001527479,0.0006864885,0.0000870847,0.02432696],"genre_scores_gemma":[0.9944395,0.0009846583,0.0009405828,0.0007789035,0.0001899185,0.00001821734,0.000192367,0.00003878757,0.002417103],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6306977,"threshold_uncertainty_score":0.7343055,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009495249103284033,"score_gpt":0.2350758001689786,"score_spread":0.2255805510656946,"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."}}