{"id":"W2949522556","doi":"10.1242/dmm.036517","title":"CRISPR-Cas9 human gene replacement and phenomic characterization in <i>Caenorhabditis elegans</i> to understand the functional conservation of human genes and decipher variants of uncertain significance","year":2018,"lang":"en","type":"article","venue":"Disease Models & Mechanisms","topic":"CRISPR and Genetic Engineering","field":"Biochemistry, Genetics and Molecular Biology","cited_by":48,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"Canadian Institutes of Health Research","keywords":"Biology; Genetics; Gene; Caenorhabditis elegans; CRISPR; Computational biology; PTEN; Genome; Phenotype; Copy-number variation; PI3K/AKT/mTOR pathway","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001503079,0.0001081652,0.0001117402,0.00003943654,0.00007593774,0.00001268021,0.00006122748,0.00004304431,0.00001137148],"category_scores_gemma":[0.000007400678,0.000101245,0.00002035878,0.00006109958,0.00005995448,0.000008146738,0.00005366757,0.00002389508,1.458214e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001338077,"about_ca_system_score_gemma":0.00003530696,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005564812,"about_ca_topic_score_gemma":0.00008209942,"domain_scores_codex":[0.9992669,0.0000333225,0.0002144862,0.0002593883,0.0001091914,0.000116697],"domain_scores_gemma":[0.9995826,0.000006541088,0.0000702424,0.0001955485,0.00007759684,0.00006741873],"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":[0.0001363763,0.00003428326,0.0004286497,0.00003211933,0.00002027088,6.16532e-7,0.0001874409,0.001126689,0.9942154,0.003592741,0.00002094708,0.0002044886],"study_design_scores_gemma":[0.0009882473,0.0004419598,0.04774213,0.00005097094,0.00005928084,0.000002763652,0.0003475067,0.01170637,0.9309462,0.007427271,0.00005365161,0.000233686],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6610923,0.0001448785,0.3383921,0.00005820221,0.0000316649,0.0001963651,0.00007117567,0.000002637327,0.00001061763],"genre_scores_gemma":[0.9988901,0.00006189041,0.0005696623,0.000172981,0.0000570042,0.00002471246,0.0001696716,0.00001469243,0.00003925867],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3378225,"threshold_uncertainty_score":0.412865,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02140115897618148,"score_gpt":0.2791803606631287,"score_spread":0.2577792016869472,"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."}}