{"id":"W2052200669","doi":"10.1002/ajmg.a.33588","title":"A prenatally recognizable malformation syndrome associated with a recurrent post‐zygotic chromosome rearrangement der(Y)t(Y;1)(q12:q21)","year":2010,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":41,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University Medical Centre","funders":"","keywords":"Syndactyly; Omphalocele; Anatomy; Microtia; Kyphoscoliosis; Karyotype; Diaphragmatic hernia; Anencephaly; Prenatal diagnosis; Medicine; Fetus; Biology; Chromosome; Hernia; Surgery; Genetics; Pregnancy","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":[0.0008056171,0.0002044748,0.0003338321,0.00008839953,0.00009907979,0.00005305564,0.0004358754,0.0001490501,0.0003228683],"category_scores_gemma":[0.0003575454,0.0001613076,0.000118355,0.000196804,0.0002803485,0.00001346317,0.0001090632,0.0004099297,0.00001287912],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003271709,"about_ca_system_score_gemma":0.0005616344,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000178065,"about_ca_topic_score_gemma":0.0001246951,"domain_scores_codex":[0.9978611,0.0001249076,0.0006268182,0.0002125856,0.0008163243,0.0003582976],"domain_scores_gemma":[0.9982398,0.00003632377,0.0006375797,0.0002700449,0.000439545,0.0003766935],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.005345534,0.008633689,0.06472972,0.0006041009,0.01079553,0.00219974,0.009934678,0.002156864,0.4666578,0.0007146338,0.02562838,0.4025993],"study_design_scores_gemma":[0.03169331,0.1363183,0.2600152,0.004365879,0.003591493,0.04814022,0.01217793,0.005426646,0.1254573,0.0009338922,0.3646943,0.00718544],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972909,0.0003170824,0.0006618538,0.0009592344,0.0004005999,0.0001498279,0.0000417389,0.000008198464,0.0001705342],"genre_scores_gemma":[0.9967246,0.0004181569,0.001914431,0.0003788116,0.0002668602,0.00001324869,0.0001336306,0.00002817896,0.0001220876],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3954139,"threshold_uncertainty_score":0.6577933,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005645176940583944,"score_gpt":0.2228249336858457,"score_spread":0.2171797567452617,"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."}}