{"id":"W2052406018","doi":"10.1016/j.jmoldx.2012.03.006","title":"Long-Range PCR and Next-Generation Sequencing of BRCA1 and BRCA2 in Breast Cancer","year":2012,"lang":"en","type":"article","venue":"Journal of Molecular Diagnostics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":56,"is_retracted":false,"has_abstract":false,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; University of Toronto; University Health Network; Mount Sinai Hospital","funders":"Ontario Genomics Institute; Ontario Genomics","keywords":"Sanger sequencing; Biology; Genetics; DNA sequencing; Breast cancer; Indel; Missense mutation; Mutation; Exon; BRCA2 Protein; INDEL Mutation; Nonsense mutation; COLD-PCR; Computational biology; Gene; Cancer; Point mutation; Genotype; Germline mutation; Single-nucleotide polymorphism","routes":{"ca_aff":true,"ca_fund":true,"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":[0.00173548,0.000337032,0.0004330105,0.001341672,0.0003819,0.0007024074,0.000602724,0.001123028,0.000790911],"category_scores_gemma":[0.004674356,0.0005684946,0.0005136707,0.0004874678,0.0004948369,0.0004031903,0.0003792511,0.00121551,0.0006511767],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005625731,"about_ca_system_score_gemma":0.0006755547,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001449429,"about_ca_topic_score_gemma":0.003709023,"domain_scores_codex":[0.9983788,0.0005614737,0.00008942172,0.0003806813,0.000454105,0.0001356431],"domain_scores_gemma":[0.9979702,0.001205012,0.0001309402,0.0001941111,0.0003604596,0.0001392682],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001089972,0.0001668539,0.02962922,0.0002875772,0.0001237985,0.0008048324,0.0005330007,0.002801357,0.8866314,0.001240123,0.001889444,0.07480243],"study_design_scores_gemma":[0.0001103467,0.0009255368,0.13921,0.0002015226,0.0003832819,0.008575754,0.0005291477,0.04173776,0.7800097,0.004131645,0.02409781,0.00008743061],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7768261,0.02539011,0.182589,0.001995567,0.0004939582,0.0003857224,0.00378805,0.001147369,0.007384084],"genre_scores_gemma":[0.8296686,0.003093785,0.1539155,0.002342186,0.0001506967,0.0004203479,0.003461282,0.0002115503,0.006735987],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00173548,"threshold_uncertainty_score":0.009178221,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02815658780952881,"score_gpt":0.2761435453054881,"score_spread":0.2479869574959593,"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."}}