{"id":"W3020443697","doi":"10.1101/mcs.a004721","title":"De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders","year":2020,"lang":"en","type":"article","venue":"Molecular Case Studies","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. Lawrence College; Ontario Genomics; Queen's University","funders":"","keywords":"Copy-number variation; Biology; Exome sequencing; Genetics; Transcriptome; Gene duplication; Neurodevelopmental disorder; Gene; Candidate gene; Phenotype; Autism; Gene expression; Genome; Medicine; Psychiatry","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":[0.00006836566,0.0001697338,0.0001488986,0.00003102487,0.0001471446,0.00002559306,0.0001068263,0.00006083263,0.000005839193],"category_scores_gemma":[0.0001004804,0.0001750229,0.00006894091,0.0001171352,0.00005597055,0.000005163864,0.0001606074,0.00008708174,0.00001306999],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004701968,"about_ca_system_score_gemma":0.00004281561,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003424254,"about_ca_topic_score_gemma":0.00003511631,"domain_scores_codex":[0.9990707,0.00006034643,0.0002011867,0.0003479698,0.00008730598,0.0002324992],"domain_scores_gemma":[0.9996646,0.000009884165,0.00005103021,0.0001683898,0.00002786379,0.00007820896],"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":[0.0001582781,0.0001540096,0.01017661,0.0001233637,0.0002472941,0.001796005,0.00410421,0.002649706,0.9772734,0.001307978,0.0007610875,0.001248034],"study_design_scores_gemma":[0.02162775,0.007991438,0.2198211,0.0004353179,0.0006258191,0.007004716,0.1036291,0.006261361,0.4186296,0.001727937,0.2036117,0.008634156],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971017,0.000705325,0.000213919,0.00113476,0.00005098371,0.0001837663,0.00002230374,0.00002005858,0.00056723],"genre_scores_gemma":[0.9961885,0.0002543464,0.00047978,0.00288089,0.000048635,0.00004486278,0.00004499029,0.00002793715,0.0000300188],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5586438,"threshold_uncertainty_score":0.7137225,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02672193061298739,"score_gpt":0.2497151473245147,"score_spread":0.2229932167115273,"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."}}