{"id":"W2734554345","doi":"10.1172/jci94378","title":"An erythroid-specific ATP2B4 enhancer mediates red blood cell hydration and malaria susceptibility","year":2017,"lang":"en","type":"article","venue":"Journal of Clinical Investigation","topic":"Erythrocyte Function and Pathophysiology","field":"Medicine","cited_by":86,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Montreal Heart Institute","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; Medical Research Council; British Heart Foundation; Cancer Research UK","keywords":"Biology; Genome-wide association study; Enhancer; Quantitative trait locus; Expression quantitative trait loci; Locus (genetics); Phenotype; Genetics; Epigenomics; Single-nucleotide polymorphism; Genotype; Transcriptome; Gene; Transcription factor; Gene expression; DNA methylation","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":[0.000291745,0.0002176334,0.000197151,0.0002390351,0.0001422368,0.0002495754,0.0002035335,0.0004332,0.002556501],"category_scores_gemma":[0.0005890134,0.0001464402,0.0002156007,0.0001449067,0.000216079,0.0001177481,0.0003001742,0.0004107481,0.0001901212],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001484838,"about_ca_system_score_gemma":0.0001720602,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008958631,"about_ca_topic_score_gemma":0.0008788259,"domain_scores_codex":[0.9998506,0.00005265858,0.000009976182,0.00003839621,0.00002694258,0.0000212841],"domain_scores_gemma":[0.9997804,0.0001066229,0.00005386788,0.00001898521,0.00001648886,0.00002371389],"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":[0.001777562,0.0001083858,0.05893061,0.0001400319,0.0002259339,0.001322041,0.0001442052,0.001193246,0.9159174,0.001932317,0.0004335018,0.01787474],"study_design_scores_gemma":[0.0003446466,0.0008004803,0.5733969,0.000127592,0.0008144651,0.006823512,0.0003336354,0.02207975,0.3765641,0.005496688,0.01315903,0.00005915786],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9887543,0.0006882387,0.008728496,0.0003218482,0.00002379014,0.00001298706,0.0005321988,0.00008110102,0.0008570474],"genre_scores_gemma":[0.9968835,0.0002013113,0.001980087,0.00008760475,0.000006628307,0.00001273829,0.0002185907,0.00001875317,0.0005907132],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002556501,"threshold_uncertainty_score":0.008552372,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08072702147503362,"score_gpt":0.3752455949388032,"score_spread":0.2945185734637696,"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."}}