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Polygenic risk score-based phenome-wide association for glaucoma and its impact on disease susceptibility in two large biobanks.
- Published in:
- Journal of Translational Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12967-024-05152-4
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- Publication type:
- Article
The genetic architecture of multimodal human brain age.
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- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-46796-6
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- Publication type:
- Article
Mediation Analysis Identifies Amyloid Imaging Genetic Patterns for Cognitive Outcomes in Alzheimer's Disease.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.078634
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- Publication type:
- Article
Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-45649-4
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- Article
Author Correction: Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-45649-4
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- Publication type:
- Article
Projecting genetic associations through gene expression patterns highlights disease etiology and drug mechanisms.
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- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-41057-4
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- Publication type:
- Article
Genome-Wide Association Study of Breast Density among Women of African Ancestry.
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- Cancers, 2023, v. 15, n. 10, p. 2776, doi. 10.3390/cancers15102776
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- Article
How to Run the Pharmacogenomics Clinical Annotation Tool (PharmCAT).
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- Clinical Pharmacology & Therapeutics, 2023, v. 113, n. 5, p. 1036, doi. 10.1002/cpt.2790
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- Publication type:
- Article
Gene burden analysis identifies genes associated with increased risk and severity of adult-onset hearing loss in a diverse hospital-based cohort.
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- PLoS Genetics, 2023, v. 18, n. 1, p. 1, doi. 10.1371/journal.pgen.1010584
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- Article
Genetic heterogeneity of four MCI/AD neuroanatomical dimensions discovered via deep learning.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2022, v. 18, n. 6, p. 1, doi. 10.1002/alz.065223
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- Publication type:
- Article
The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population.
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- Journal of Personalized Medicine, 2022, v. 12, n. 12, p. 1974, doi. 10.3390/jpm12121974
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- Article
Evaluating the frequency and the impact of pharmacogenetic alleles in an ancestrally diverse Biobank population.
- Published in:
- 2022
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- Publication type:
- journal article
Quality Control Procedures for Genome‐Wide Association Studies.
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- Current Protocols, 2022, v. 2, n. 11, p. 1, doi. 10.1002/cpz1.603
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- Article
Pharmacogenetics of Dolutegravir Plasma Exposure Among Southern Africans With Human Immunodeficiency Virus.
- Published in:
- 2022
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- Publication type:
- journal article
Estimating the effect size of a hidden causal factor between SNPs and a continuous trait: a mediation model approach.
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- BMC Bioinformatics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12859-022-04977-4
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- Publication type:
- Article
ColocQuiaL: a QTL-GWAS colocalization pipeline.
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- Bioinformatics, 2022, v. 38, n. 18, p. 4409, doi. 10.1093/bioinformatics/btac512
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- Publication type:
- Article
Pharmacogenetics of Between-Individual Variability in Plasma Clearance of Bedaquiline and Clofazimine in South Africa.
- Published in:
- 2022
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- Publication type:
- journal article
Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30678-w
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- Publication type:
- Article
genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank.
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- Human Molecular Genetics, 2022, v. 31, n. 5, p. 827, doi. 10.1093/hmg/ddab249
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- Publication type:
- Article
Genetic liability for substance use associated with medical comorbidities in electronic health records of African‐ and European‐ancestry individuals.
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- Addiction Biology, 2022, v. 27, n. 1, p. 1, doi. 10.1111/adb.13099
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- Publication type:
- Article
A Multi-Marker Test for Analyzing Paired Genetic Data in Transplantation.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.745773
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- Article
Efavirenz Pharmacogenetics and Weight Gain Following Switch to Integrase Inhibitor–Containing Regimens.
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- Clinical Infectious Diseases, 2021, v. 73, n. 7, p. e2153, doi. 10.1093/cid/ciaa1219
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- Article
From GWAS to Gene: Transcriptome-Wide Association Studies and Other Methods to Functionally Understand GWAS Discoveries.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.713230
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- Publication type:
- Article
eQTpLot: a user-friendly R package for the visualization of colocalization between eQTL and GWAS signals.
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- BioData Mining, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13040-021-00267-6
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- Publication type:
- Article
Research on COVID-19 through patient-reported data: a survey for observational studies in the COVID-19 pandemic.
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- Journal of Clinical & Translational Science, 2021, v. 5, n. 1, p. 1, doi. 10.1017/cts.2020.509
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- Publication type:
- Article
Tissue specificity-aware TWAS (TSA-TWAS) framework identifies novel associations with metabolic, immunologic, and virologic traits in HIV-positive adults.
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- PLoS Genetics, 2021, v. 17, n. 4, p. 1, doi. 10.1371/journal.pgen.1009464
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- Publication type:
- Article
Medical records-based chronic kidney disease phenotype for clinical care and "big data" observational and genetic studies.
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- NPJ Digital Medicine, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s41746-021-00428-1
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- Publication type:
- Article
Disrupting upstream translation in mRNAs is associated with human disease.
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- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21812-1
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- Publication type:
- Article
Lossless integration of multiple electronic health records for identifying pleiotropy using summary statistics.
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- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-020-20211-2
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- Publication type:
- Article
Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort.
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- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-020-00854-2
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- Article
Genetics of height and risk of atrial fibrillation: A Mendelian randomization study.
- Published in:
- 2020
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- Publication type:
- journal article
Effect of CYP3A4*22 and PPAR-α Genetic Variants on Platelet Reactivity in Patients Treated with Clopidogrel and Lipid-Lowering Drugs Undergoing Elective Percutaneous Coronary Intervention.
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- Genes, 2020, v. 11, n. 9, p. 1068, doi. 10.3390/genes11091068
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- Article
Ideas for how informaticians can get involved with COVID-19 research.
- Published in:
- 2020
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- Publication type:
- Editorial
Pharmacogenomics Clinical Annotation Tool (PharmCAT).
- Published in:
- Clinical Pharmacology & Therapeutics, 2020, v. 107, n. 1, p. 203, doi. 10.1002/cpt.1568
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- Publication type:
- Article
CLARITE Facilitates the Quality Control and Analysis Process for EWAS of Metabolic-Related Traits.
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- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01240
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- Publication type:
- Article
A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.
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- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0078-7
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- Publication type:
- Article
P4‐486: EXPLORING RARE VARIATIONS THAT IMPACT REGIONS OF PROTEINS ASSOCIATED WITH ALZHEIMER'S DISEASE.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P1498, doi. 10.1016/j.jalz.2019.08.032
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- Publication type:
- Article
GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network.
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- 2019
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- Publication type:
- journal article
Exploration of a diversity of computational and statistical measures of association for genome-wide genetic studies.
- Published in:
- BioData Mining, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13040-019-0201-4
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- Publication type:
- Article
Correction to: Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population.
- Published in:
- 2019
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- Publication type:
- Correction Notice
Innovative strategies for annotating the "relationSNP" between variants and molecular phenotypes.
- Published in:
- BioData Mining, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13040-019-0197-9
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- Publication type:
- Article
Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population.
- Published in:
- BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0504-9
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- Publication type:
- Article
Heritability and genome-wide association study of benign prostatic hyperplasia (BPH) in the eMERGE network.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-42427-z
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- Publication type:
- Article
A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.
- Published in:
- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0078-7
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- Publication type:
- Article
The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype.
- Published in:
- Genetic Epidemiology, 2019, v. 43, n. 1, p. 63, doi. 10.1002/gepi.22167
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- Publication type:
- Article
Real world scenarios in rare variant association analysis: the impact of imbalance and sample size on the power in silico.
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- BMC Bioinformatics, 2019, v. 20, n. 1, p. 1, doi. 10.1186/s12859-018-2591-6
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- Publication type:
- Article
P4‐238: PATHWAY LEVEL CODON BIAS AMONG SYNONYMOUS RARE VARIANTS IS ASSOCIATED WITH ALZHEIMER'S DISEASE IMAGING BIOMARKER.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P1534, doi. 10.1016/j.jalz.2018.07.059
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- Publication type:
- Article
PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04766-9
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- Publication type:
- Article
PharmCAT: A Pharmacogenomics Clinical Annotation Tool.
- Published in:
- Clinical Pharmacology & Therapeutics, 2018, v. 104, n. 1, p. 19, doi. 10.1002/cpt.928
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- Publication type:
- Article