{"id":"W2277514647","doi":"10.1002/ajmg.a.37598","title":"De novo 14q24.2q24.3 microdeletion including <i>IFT43</i> is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia","year":2016,"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":35,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University","funders":"Universitair Medisch Centrum Utrecht; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Nierstichting; ZonMw","keywords":"Biology; Sanger sequencing; Exome sequencing; Genetics; Phenotype; Gene; Comparative genomic hybridization; Exome; Candidate gene; Chromosome; Mutation","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":[0.0007552261,0.0002066132,0.0003817313,0.00004247259,0.0001076602,0.00004181751,0.0002780553,0.0001438928,0.000104303],"category_scores_gemma":[0.0004275503,0.0001426088,0.0001215795,0.000132965,0.0009553224,0.000009093714,0.0001920582,0.0001683274,0.000002279391],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007858475,"about_ca_system_score_gemma":0.0003953208,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002336762,"about_ca_topic_score_gemma":0.00003034287,"domain_scores_codex":[0.9981733,0.0002279661,0.00049048,0.0002618078,0.0004790029,0.0003674206],"domain_scores_gemma":[0.998788,0.0001477161,0.0003377602,0.0002119033,0.000184019,0.0003305728],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0007951323,0.0007441453,0.6731443,0.00007254208,0.002132539,0.00008421191,0.004199946,0.00003408075,0.1583544,0.0002616986,0.009404967,0.1507721],"study_design_scores_gemma":[0.01123567,0.02620842,0.1644817,0.001693143,0.001260118,0.004303894,0.008774446,0.000253825,0.1523647,0.0007704876,0.6254447,0.003208945],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9941803,0.001135435,0.002569679,0.001759585,0.0001357026,0.00007584065,0.00006563874,0.000006314781,0.00007149646],"genre_scores_gemma":[0.9954544,0.002470074,0.0008625354,0.0005926209,0.0004217752,0.000005547769,0.00001766757,0.00002747105,0.0001479049],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6160398,"threshold_uncertainty_score":0.5815417,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009572800665555431,"score_gpt":0.239607709632339,"score_spread":0.2300349089667836,"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."}}