{"id":"W1964683842","doi":"10.1073/pnas.0813248106","title":"The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies","year":2009,"lang":"en","type":"article","venue":"Proceedings of the National Academy of Sciences","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":397,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"National Institute of General Medical Sciences","keywords":"Trisomy; Genetics; Down syndrome; Biology; Phenotype; Copy-number variation; Microcephaly; Chromosome 21; Comparative genomic hybridization; Bioinformatics; Chromosome; Gene; Genome","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":[0.0004168336,0.00006920858,0.0001511665,0.00009186691,0.0001774115,0.000009170488,0.0004605254,0.00006187404,0.000005826874],"category_scores_gemma":[0.00007138056,0.00004205985,0.0001109879,0.0004347368,0.0004852577,0.000009601168,0.00006254945,0.00004947215,6.197604e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009970644,"about_ca_system_score_gemma":0.00001893486,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001845006,"about_ca_topic_score_gemma":6.155981e-7,"domain_scores_codex":[0.9990306,0.00001054413,0.000331281,0.0001391025,0.0003935799,0.00009484946],"domain_scores_gemma":[0.9993388,0.00002239862,0.0004610904,0.0000154955,0.0001479235,0.00001427027],"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":[0.0000182965,0.00003916182,0.005397975,0.00001603837,0.000123079,1.350685e-9,0.00009584527,0.0007858441,0.9881042,0.005064793,0.0002070081,0.0001477354],"study_design_scores_gemma":[0.0001643686,0.0002385148,0.3538122,0.00001808962,0.0001257464,0.000003689189,0.0002110333,0.0001202792,0.6358694,0.009318547,0.00005416343,0.00006396748],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983475,0.0004964236,0.000005727004,0.0006134631,0.000006243566,0.00008853345,0.00007350835,0.000001458504,0.0003672033],"genre_scores_gemma":[0.9991348,0.00005892578,0.0005835431,0.00004013578,0.0000202434,0.000003141681,0.000002969976,0.000001604934,0.0001546649],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3522348,"threshold_uncertainty_score":0.1787952,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009713145388644148,"score_gpt":0.2498749769033817,"score_spread":0.2401618315147375,"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."}}