{"id":"W2995825657","doi":"10.1101/2019.12.19.882191","title":"Loss of function variants in <i>PCYT1A</i> causing spondylometaphyseal dysplasia with cone/rod dystrophy have broad consequences on lipid metabolism, chondrocyte differentiation, and lipid droplet formation","year":2019,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Ubiquitin and proteasome pathways","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Simon Fraser University","funders":"Johns Hopkins University","keywords":"Wild type; HEK 293 cells; Biology; Lipid metabolism; Transfection; Null allele; Null cell; Molecular biology; Phenotype; Cell biology; Cell culture; Mutant; Biochemistry; Genetics; Gene","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":[0.0002560445,0.000881833,0.0003873759,0.0004336261,0.0003511183,0.0004761551,0.0003586708,0.0007103064,0.002795485],"category_scores_gemma":[0.0002759058,0.0002607057,0.0006377827,0.0003387176,0.0005631227,0.0001403812,0.0003941089,0.0008078372,0.001284471],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004515748,"about_ca_system_score_gemma":0.0003427003,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003004464,"about_ca_topic_score_gemma":0.004988053,"domain_scores_codex":[0.9995773,0.00005481667,0.00009152519,0.0001133013,0.0001137347,0.00004937047],"domain_scores_gemma":[0.9996206,0.00006837837,0.0001409266,0.00003108218,0.00002937878,0.0001095488],"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":[0.0001721742,0.00003750976,0.0007472875,0.00004911248,0.00003285949,0.001543287,0.00004236992,0.000253647,0.9951451,0.0002672524,0.0002363263,0.001472988],"study_design_scores_gemma":[0.0001687168,0.000555222,0.03978568,0.00008423518,0.000211905,0.01918074,0.0002515405,0.006597042,0.9180254,0.0004845664,0.01457683,0.00007810343],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9832109,0.0007219284,0.007710317,0.0002820125,0.0001189229,0.00009390697,0.004792648,0.0004469515,0.002622444],"genre_scores_gemma":[0.9917618,0.0003391244,0.003530592,0.0002045579,0.00001558735,0.0000558354,0.001759596,0.0001927969,0.002139998],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003004464,"threshold_uncertainty_score":0.00935185,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009641272916840186,"score_gpt":0.2041914102513426,"score_spread":0.1945501373345024,"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."}}