{"id":"W2086384819","doi":"10.1002/ajmg.a.33516","title":"Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions","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":62,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University","funders":"","keywords":"Monosomy; Hypotonia; Genetics; Biology; Phenotype; Gene; Haploinsufficiency; Candidate gene; Chromosomal Deletion; Chromosome; Karyotype","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002775333,0.0005910968,0.0003043245,0.0009836982,0.0002535755,0.000275235,0.0003817957,0.0003638458,0.001991694],"category_scores_gemma":[0.0008510813,0.0001570168,0.0002160083,0.0002475666,0.0004744425,0.0002402426,0.0004740845,0.0005225134,0.0003834403],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002258951,"about_ca_system_score_gemma":0.0002834012,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001371859,"about_ca_topic_score_gemma":0.001407429,"domain_scores_codex":[0.9998071,0.00003951808,0.00002743887,0.00004917635,0.00005164072,0.00002527119],"domain_scores_gemma":[0.9998342,0.000073335,0.00003109624,0.00001283378,0.00002004162,0.00002846992],"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":[0.0008386996,0.0001495873,0.07101811,0.0002370202,0.00005005968,0.03377425,0.0005876209,0.002382588,0.8398704,0.003344576,0.0008100438,0.04693708],"study_design_scores_gemma":[0.0001828331,0.0008910121,0.3779245,0.0001850395,0.0002532663,0.1488263,0.001001528,0.009637804,0.4157919,0.003815739,0.04141211,0.00007778281],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9822891,0.002193979,0.01146264,0.0005344319,0.00003182232,0.00008510055,0.0003944481,0.0001139923,0.00289454],"genre_scores_gemma":[0.9864236,0.001068427,0.01066422,0.00009150974,0.00002246987,0.00004768085,0.0005604138,0.00002779428,0.001093967],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001991694,"threshold_uncertainty_score":0.006662846,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01620171383557044,"score_gpt":0.2949903067825966,"score_spread":0.2787885929470262,"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."}}