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A machine learning model identifies patients in need of autoimmune disease testing using electronic health records.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37996-7
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- Publication type:
- Article
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.
- Published in:
- Journal of Clinical Investigation, 2012, v. 122, n. 7, p. 2439, doi. 10.1172/JCI63597
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- Publication type:
- Article
No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans.
- Published in:
- Nature Genetics, 2015, v. 47, n. 2, p. 126, doi. 10.1038/ng.3186
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- Publication type:
- Article
Common variants associated with plasma triglycerides and risk for coronary artery disease.
- Published in:
- Nature Genetics, 2013, v. 45, n. 11, p. 1345, doi. 10.1038/ng.2795
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- Publication type:
- Article
Discovery and refinement of loci associated with lipid levels.
- Published in:
- Nature Genetics, 2013, v. 45, n. 11, p. 1274, doi. 10.1038/ng.2797
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- Publication type:
- Article
Exome sequencing and the genetic basis of complex traits.
- Published in:
- Nature Genetics, 2012, v. 44, n. 6, p. 623, doi. 10.1038/ng.2303
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- Publication type:
- Article
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis.
- Published in:
- Nature Genetics, 2012, v. 44, n. 5, p. 483, doi. 10.1038/ng.2232
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- Publication type:
- Article
Non-invasive ventilation versus mechanical ventilation in hypoxemic patients with COVID-19.
- Published in:
- Infection, 2021, v. 49, n. 5, p. 989, doi. 10.1007/s15010-021-01633-6
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- Article
Multimodal fusion learning for long QT syndrome pathogenic genotypes in a racially diverse population.
- Published in:
- NPJ Digital Medicine, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s41746-024-01218-1
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- Publication type:
- Article
A machine learning model identifies patients in need of autoimmune disease testing using electronic health records.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37996-7
- By:
- Publication type:
- Article
Exploiting the GTEx resources to decipher the mechanisms at GWAS loci.
- Published in:
- Genome Biology, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s13059-020-02252-4
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- Publication type:
- Article
Probing the aggregated effects of purifying selection per individual on 1,380 medical phenotypes in the UK biobank.
- Published in:
- PLoS Genetics, 2021, v. 17, n. 1, p. 1, doi. 10.1371/journal.pgen.1009337
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- Article
Estimation of metabolic syndrome heritability in three large populations including full pedigree and genomic information.
- Published in:
- Human Genetics, 2019, v. 138, n. 7, p. 739, doi. 10.1007/s00439-019-02024-6
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- Publication type:
- Article
An atlas of associations between 14 micronutrients and 22 cancer outcomes: Mendelian randomization analyses.
- Published in:
- BMC Medicine, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12916-023-03018-y
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- Publication type:
- Article
Genetic and phenotypic profiling of supranormal ejection fraction reveals decreased survival and underdiagnosed heart failure.
- Published in:
- European Journal of Heart Failure, 2022, v. 24, n. 11, p. 2118, doi. 10.1002/ejhf.2482
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- Publication type:
- Article
Phenome-wide Mendelian randomization study of plasma triglyceride levels and 2600 disease traits.
- Published in:
- eLife, 2023, p. 1, doi. 10.7554/eLife.80560
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- Publication type:
- Article
Quantitative Prediction of Right Ventricular Size and Function From the ECG.
- Published in:
- Journal of the American Heart Association, 2024, v. 13, n. 1, p. 1, doi. 10.1161/JAHA.123.031671
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- Publication type:
- Article
Machine Learning Identifies Plasma Metabolites Associated With Heart Failure in Underrepresented Populations With the TTR V122I Variant.
- Published in:
- Journal of the American Heart Association, 2023, v. 12, n. 8, p. 1, doi. 10.1161/JAHA.122.027736
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- Publication type:
- Article
Derivation and Validation of Genome-Wide Polygenic Score for Ischemic Heart Failure.
- Published in:
- 2021
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- Publication type:
- journal article
Genome-wide polygenic risk score for retinopathy of type 2 diabetes.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 10, p. 952, doi. 10.1093/hmg/ddab067
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- Publication type:
- Article
Whole-exome sequencing of over 4100 men of African ancestry and prostate cancer risk.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 2, p. 371, doi. 10.1093/hmg/ddv462
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- Article
Exome sequencing and complex disease: practical aspects of rare variant association studies.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. R1, p. R1
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- Article
Penetrance of Deleterious Clinical Variants-Reply.
- Published in:
- 2022
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- Publication type:
- Letter to the Editor
Population-Based Penetrance of Deleterious Clinical Variants.
- Published in:
- 2022
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- Publication type:
- journal article
Cholesterol Contributes to Risk, Severity, and Machine Learning-Driven Diagnosis of Lyme Disease.
- Published in:
- Clinical Infectious Diseases, 2023, v. 77, n. 6, p. 839, doi. 10.1093/cid/ciad307
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- Publication type:
- Article
Genetic Variants of FTO Influence Adiposity, Insulin Sensitivity, Leptin Levels, and Resting Metabolic Rate in the Quebec Family Study.
- Published in:
- Diabetes, 2008, v. 57, n. 4, p. 1147, doi. 10.2337/db07-1267
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- Publication type:
- Article
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
- Published in:
- Nature, 2015, v. 518, n. 7537, p. 102, doi. 10.1038/nature13917
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- Publication type:
- Article
Disproportionate Contributions of Select Genomic Compartments and Cell Types to Genetic Risk for Coronary Artery Disease.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 10, p. 1, doi. 10.1371/journal.pgen.1005622
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- Publication type:
- Article
Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 8, p. 1, doi. 10.1371/journal.pgen.1005436
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- Publication type:
- Article
No causal effects of serum urate levels on the risk of chronic kidney disease: A Mendelian randomization study.
- Published in:
- 2019
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- Publication type:
- journal article
Genetic pleiotropy of ERCC6 loss‐of‐function and deleterious missense variants links retinal dystrophy, arrhythmia, and immunodeficiency in diverse ancestries.
- Published in:
- Human Mutation, 2021, v. 42, n. 8, p. 969, doi. 10.1002/humu.24220
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- Publication type:
- Article
K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population.
- Published in:
- Human Mutation, 2008, v. 29, n. 5, p. 689, doi. 10.1002/humu.20702
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- Publication type:
- Article
Expanding drug targets for 112 chronic diseases using a machine learning-assisted genetic priority score.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-53333-y
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- Publication type:
- Article
HOPS: a quantitative score reveals pervasive horizontal pleiotropy in human genetic variation is driven by extreme polygenicity of human traits and diseases.
- Published in:
- Genome Biology, 2019, v. 20, n. 1, p. 1, doi. 10.1186/s13059-019-1844-7
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- Publication type:
- Article
Association of Low-Density Lipoprotein Cholesterol-Related Genetic Variants With Aortic Valve Calcium and Incident Aortic Stenosis.
- Published in:
- JAMA: Journal of the American Medical Association, 2014, v. 312, n. 17, p. 1764, doi. 10.1001/jama.2014.13959
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- Publication type:
- Article
Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia.
- Published in:
- European Heart Journal, 2012, v. 33, n. 11, p. 1360, doi. 10.1093/eurheartj/ehs010
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- Publication type:
- Article
Variation at the NFATC2 Locus Increases the Risk of Thiazolidinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study.
- Published in:
- Diabetes Care, 2010, v. 33, n. 10, p. 2250, doi. 10.2337/dc10-0452
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- Publication type:
- Article
Associations of Circulating Biomarkers with Disease Risks: A Two-Sample Mendelian Randomization Study.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 13, p. 7376, doi. 10.3390/ijms25137376
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- Publication type:
- Article
The Effect of Chromosome 9p21 Variants on Cardiovascular Disease May Be Modified by Dietary Intake: Evidence from a Case/Control and a Prospective Study.
- Published in:
- PLoS Medicine, 2011, v. 8, n. 10, p. 1, doi. 10.1371/journal.pmed.1001106
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- Article
The effect of chromosome 9p21 variants on cardiovascular disease may be modified by dietary intake: evidence from a case/control and a prospective study.
- Published in:
- 2011
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- Publication type:
- journal article
A tissue-level phenome-wide network map of colocalized genes and phenotypes in the UK Biobank.
- Published in:
- Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03820-z
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- Publication type:
- Article
Causal effect of adiposity on the risk of 19 gastrointestinal diseases: a Mendelian randomization study.
- Published in:
- Obesity (19307381), 2023, v. 31, n. 5, p. 1436, doi. 10.1002/oby.23722
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- Publication type:
- Article