{"id":"W2014530882","doi":"10.1007/s00335-004-2428-7","title":"Identification and characterization of a new Down syndrome model, Ts[Rb(12.1716)]2Cje, resulting from a spontaneous Robertsonian fusion between T(1716)65Dn and mouseChromosome 12","year":2005,"lang":"en","type":"article","venue":"Mammalian Genome","topic":"Down syndrome and intellectual disability research","field":"Medicine","cited_by":100,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"National Institute of Neurological Disorders and Stroke; National Institute on Aging; National Institutes of Health; Down Syndrome Research Foundation; Down Syndrome Research and Treatment Foundation; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Larry L. Hillblom Foundation","keywords":"Biology; Trisomy; Chromosome 21; Robertsonian translocation; Aneuploidy; Population; Genetics; Chromosomal translocation; Chromosomal rearrangement; Chromosome; Karyotype; Gene","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0003931677,0.0003092756,0.0006567625,0.0002965856,0.0001666747,0.0001195902,0.000197017,0.0002569202,0.0009633539],"category_scores_gemma":[0.0001983021,0.0003020589,0.00009254472,0.0002729936,0.0001844477,0.0003588172,0.0001879996,0.000312268,0.0001407551],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000182492,"about_ca_system_score_gemma":0.0001438154,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005399447,"about_ca_topic_score_gemma":0.0001321608,"domain_scores_codex":[0.9972993,0.0001014439,0.0008446023,0.0007317491,0.0005451615,0.0004778007],"domain_scores_gemma":[0.9985399,0.00007822013,0.0001987155,0.000606805,0.0001251435,0.0004512552],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0004533918,0.0002140375,0.02011364,0.0003358174,0.0001332775,0.00007259266,0.006409726,0.00003362627,0.9438135,0.00002447046,0.0001148382,0.02828109],"study_design_scores_gemma":[0.003191873,0.001270905,0.9512614,0.0004871255,0.0003748925,0.001728023,0.0003999028,0.01824553,0.01589917,0.0004165301,0.005928201,0.0007964305],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995612,0.0002378983,0.0007761995,0.001576872,0.0000341771,0.0009068088,0.0002836884,0.00007778422,0.000494632],"genre_scores_gemma":[0.984592,0.0002641972,0.000735161,0.0001033289,0.0002217282,0.00002103488,0.0006361391,0.00005921851,0.01336719],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9311478,"threshold_uncertainty_score":0.9999499,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03105234712952648,"score_gpt":0.2708158704187178,"score_spread":0.2397635232891913,"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."}}