{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00003862586,0.0001219106,0.0001034297,0.00004878745,0.0001010933,0.00004860232,0.00009667112,0.00007152627,0.00005253512],"category_scores_gemma":[0.000007860606,0.0001187333,0.00004371782,0.00009360878,0.00007357189,0.000004199192,0.00009176596,0.00006666532,0.00001311574],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002195547,"about_ca_system_score_gemma":0.0001498183,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003167586,"about_ca_topic_score_gemma":0.001376558,"domain_scores_codex":[0.9993122,0.00002246198,0.0001659898,0.0002079859,0.00008606704,0.0002052574],"domain_scores_gemma":[0.9995924,0.000004197467,0.00003192935,0.0002325382,0.00008839434,0.00005056646],"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":[0.0000149509,0.00003798328,0.01381576,0.00002155852,0.00005891675,0.00004063543,0.0004130852,0.0003360192,0.9838423,0.0003259089,0.0000125778,0.001080339],"study_design_scores_gemma":[0.002902869,0.001646881,0.2979589,0.00004908199,0.0001332221,0.0003963247,0.009799557,0.0002145693,0.5845733,0.0004161793,0.1003944,0.001514781],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9767836,0.001863772,0.0001255972,0.00002022282,0.00003157214,0.0000753643,0.00003132779,0.000009883622,0.02105864],"genre_scores_gemma":[0.9941874,0.0002685869,0.0007002969,0.0001141872,0.0001202698,0.00001356545,0.0002710328,0.00001757392,0.004307087],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.399269,"threshold_uncertainty_score":0.4841804,"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."}}