{"id":"W2140186117","doi":"10.1002/ajmg.a.35381","title":"Germline mosaicism in Cornelia de Lange syndrome","year":2012,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":38,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","keywords":"Cornelia de Lange Syndrome; Germline mosaicism; Germline; Germline mutation; Genetics; Genetic counseling; Biology; Mutation; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007439521,0.00008508631,0.0001841962,0.00004849227,0.00001729369,0.000007222035,0.0002619423,0.00008066488,0.0001001217],"category_scores_gemma":[0.0001172585,0.00007231336,0.00006977071,0.0001246961,0.0001665555,0.000002853582,0.00004555917,0.0001815685,0.000008192134],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002372521,"about_ca_system_score_gemma":0.0002046825,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002124428,"about_ca_topic_score_gemma":0.00001066977,"domain_scores_codex":[0.9988798,0.00008798848,0.0003267381,0.00008919589,0.0003388507,0.0002774086],"domain_scores_gemma":[0.9992301,0.00001660916,0.0001857179,0.0001683354,0.00005557248,0.0003436369],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003562619,0.001574251,0.5560677,0.00004303828,0.0003725474,0.0003120776,0.001286875,0.0005441771,0.09088654,0.0002903038,0.03968628,0.30858],"study_design_scores_gemma":[0.002326463,0.002310078,0.4338102,0.0001703185,0.00009248342,0.003513846,0.0009297052,0.0004568014,0.008932781,0.0001096321,0.5468006,0.000547113],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992295,0.004449893,0.002100153,0.0007784449,0.000206097,0.00003470098,0.000004348499,0.000001701475,0.0001296732],"genre_scores_gemma":[0.9942928,0.003073288,0.0011868,0.000828877,0.0004890412,0.000005038738,0.000006771666,0.00001357796,0.0001038115],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5071143,"threshold_uncertainty_score":0.2948853,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01381757102822861,"score_gpt":0.3008499940554514,"score_spread":0.2870324230272228,"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."}}