{"id":"W3021057917","doi":"10.1002/ijc.33039","title":"Clustering of known low and moderate risk alleles rather than a novel recessive high‐risk gene in non‐<scp>BRCA1</scp>/2 sib trios affected with breast cancer","year":2020,"lang":"en","type":"article","venue":"International Journal of Cancer","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institutes of Health; Cancer Research UK; National Cancer Institute; KWF Kankerbestrijding; Genome Canada","keywords":"Breast cancer; Genetics; Proband; CHEK2; Haplotype; Allele; Exome sequencing; Biology; Population; Single-nucleotide polymorphism; Exome; Cancer; Genotype; Germline mutation; Medicine; Gene; Mutation","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002295446,0.0003040414,0.0004085999,0.001240348,0.0007877233,0.0005008271,0.000279766,0.0004167002,0.00267477],"category_scores_gemma":[0.0009180686,0.0002307917,0.00040686,0.0008962555,0.0004304939,0.0001393296,0.0004327992,0.0003377305,0.0003989763],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001813714,"about_ca_system_score_gemma":0.0001858836,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002036861,"about_ca_topic_score_gemma":0.003619633,"domain_scores_codex":[0.9995794,0.00007716977,0.00005622901,0.0001422686,0.00009372856,0.00005117518],"domain_scores_gemma":[0.9994441,0.0001193778,0.0002031341,0.00008546129,0.00003889016,0.0001091224],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001095495,0.0001807891,0.8384448,0.00006780303,0.0002843213,0.01377433,0.001247905,0.0002502475,0.136654,0.000285399,0.0006076828,0.007107144],"study_design_scores_gemma":[0.00002657301,0.0001236694,0.9814523,0.00001181546,0.0001079649,0.01439612,0.0003033094,0.0005164006,0.00237602,0.0002007045,0.0004683059,0.00001691274],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994462,0.00004866542,0.0001644826,0.0000117468,0.000003094455,0.000006589006,0.00007410646,0.000007422787,0.0002375674],"genre_scores_gemma":[0.99911,0.00004808938,0.0002577101,0.00002746575,0.000007236519,0.000008701282,0.0003162966,0.000009478485,0.0002149916],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00267477,"threshold_uncertainty_score":0.008947968,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006907384461375919,"score_gpt":0.2614491970291434,"score_spread":0.2545418125677675,"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."}}