{"id":"W3174225257","doi":"10.1007/s00439-021-02295-y","title":"Genome sequencing in families with congenital limb malformations","year":2021,"lang":"en","type":"article","venue":"Human Genetics","topic":"Congenital limb and hand anomalies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":25,"is_retracted":false,"has_abstract":true,"ca_institutions":"Jewish General Hospital","funders":"Deutsches Zentrum für Luft- und Raumfahrt; Berlin Institute of Health; Studienstiftung des Deutschen Volkes; Deutsche Forschungsgemeinschaft","keywords":"Biology; Ectrodactyly; Genetics; Genome; Human genetics; Genetic testing; Gene; DNA sequencing; Disease; Whole genome sequencing; Candidate gene; Bioinformatics; Pathology; Medicine","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":[0.0003860779,0.0002973549,0.0002563071,0.001662126,0.0003886077,0.000306338,0.0002317644,0.0004821945,0.00163508],"category_scores_gemma":[0.001321608,0.0001266264,0.0002500182,0.001112077,0.0001668517,0.0001027122,0.0004056981,0.0002443963,0.0002810674],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002622338,"about_ca_system_score_gemma":0.0002682574,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004699891,"about_ca_topic_score_gemma":0.006428767,"domain_scores_codex":[0.9995049,0.0001194921,0.00003479571,0.0001554453,0.000122226,0.00006313116],"domain_scores_gemma":[0.9996641,0.0001374636,0.00006518867,0.00003237686,0.00005070521,0.00005024344],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004795142,0.0001101471,0.8263915,0.0002194914,0.0002000675,0.02548874,0.001188091,0.0008006418,0.07025747,0.0008011608,0.005378318,0.06868479],"study_design_scores_gemma":[0.00006787175,0.0002061067,0.929003,0.00007317176,0.0001832434,0.03692593,0.0004991399,0.002073073,0.01316014,0.0008332425,0.01695481,0.00002019518],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9884679,0.001447089,0.002392637,0.0002577904,0.0000337889,0.00007348015,0.004748445,0.00007955843,0.002499314],"genre_scores_gemma":[0.9894751,0.0009441028,0.003853881,0.0003075658,0.00002857844,0.00006147353,0.004311136,0.00003110725,0.0009870541],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004699891,"threshold_uncertainty_score":0.009345055,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01614850129199273,"score_gpt":0.2323676800882851,"score_spread":0.2162191787962924,"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."}}