{"id":"W1632475638","doi":"10.1158/1538-7445.am2014-941","title":"Abstract 941: Exome sequencing identified <i>POT1</i>, a telomere shelterin gene, as a major susceptibility gene for familial cutaneous malignant melanoma","year":2014,"lang":"en","type":"article","venue":"Cancer Research","topic":"Telomeres, Telomerase, and Senescence","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Concordia University; McGill University","funders":"","keywords":"Exome sequencing; CDKN2A; Exome; Genetics; Biology; Penetrance; Telomere; Shelterin; Telomere-binding protein; Germline mutation; Melanoma; Missense mutation; Mutation; Gene; Cancer research; Phenotype","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":[0.000151736,0.0004857976,0.0002656167,0.0004944215,0.0003124871,0.0003162897,0.0001965573,0.0005156152,0.004832372],"category_scores_gemma":[0.0005614525,0.0001065107,0.0004313765,0.0004685129,0.0001481823,0.0000867329,0.0002980596,0.0003311501,0.0008488197],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002920865,"about_ca_system_score_gemma":0.0001775668,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002261788,"about_ca_topic_score_gemma":0.002985239,"domain_scores_codex":[0.9999073,0.000009398118,0.00000680701,0.00004274839,0.00002095817,0.0000128286],"domain_scores_gemma":[0.999837,0.00005630431,0.00004502975,0.00001565515,0.00002091918,0.00002496102],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00283464,0.000251117,0.4518428,0.0007795542,0.0007953391,0.04705015,0.001052678,0.00228965,0.4193349,0.0008419591,0.01440182,0.05852555],"study_design_scores_gemma":[0.0002665628,0.0003698946,0.8960931,0.0002116583,0.0006020336,0.02948687,0.0002688437,0.003759649,0.03956186,0.0005774524,0.02876131,0.00004073867],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9864317,0.0005416448,0.001395624,0.000253422,0.00003144021,0.00003898271,0.009624247,0.00009159921,0.001591398],"genre_scores_gemma":[0.9818723,0.0004106793,0.001934985,0.0002917707,0.00004217827,0.00004017527,0.01245538,0.0000586557,0.002893891],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004832372,"threshold_uncertainty_score":0.01616585,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0820255016447718,"score_gpt":0.3806213988431563,"score_spread":0.2985958971983845,"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."}}