Samuela Pollack
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View article: Genome-wide Comparison of African-Ancestry Populations from CARe and Other Cohorts Reveals Signals of Natural Selection
Genome-wide Comparison of African-Ancestry Populations from CARe and Other Cohorts Reveals Signals of Natural Selection Open
The study of recent natural selection in human populations has important applications to human history and medicine. Positive natural selection drives the increase in beneficial alleles and plays a role in explaining diversity across human…
View article: Replication and fine mapping of asthma-associated loci in individuals of African ancestry
Replication and fine mapping of asthma-associated loci in individuals of African ancestry Open
Asthma originates from genetic and environmental factors with about half the risk of disease attributable to heritable causes. Genome-wide association studies, mostly in populations of European ancestry, have identified numerous asthma-ass…
View article: Erratum. Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control. Diabetes 2019;68:441—456
Erratum. Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control. Diabetes 2019;68:441—456 Open
In the article cited above, in the first paragraph of results, a link to the full set of results was given as https://www.ncbi.nlm.nih.gov/gap. Due …
View article: restfulSE: A semantically rich interface for cloud-scale genomics with Bioconductor
restfulSE: A semantically rich interface for cloud-scale genomics with Bioconductor Open
Bioconductor's SummarizedExperiment class unites numerical assay quantifications with sample- and experiment-level metadata. SummarizedExperiment is the standard Bioconductor class for assays that produce matrix-like data, used by over 200…
View article: Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control
Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control Open
To identify genetic variants associated with diabetic retinopathy (DR), we performed a large multiethnic genome-wide association study. Discovery included eight European cohorts (n = 3,246) and seven African American cohorts (n = 2,611). W…
View article: A genome‐wide association study suggests new evidence for an association of the <scp>NADPH</scp> Oxidase 4 (<i><scp>NOX</scp>4</i>) gene with severe diabetic retinopathy in type 2 diabetes
A genome‐wide association study suggests new evidence for an association of the <span>NADPH</span> Oxidase 4 (<i><span>NOX</span>4</i>) gene with severe diabetic retinopathy in type 2 diabetes Open
Purpose Diabetic retinopathy is the most common eye complication in patients with diabetes. The purpose of this study is to identify genetic factors contributing to severe diabetic retinopathy. Methods A genome‐wide association approach wa…
View article: Genetically Determined Plasma Lipid Levels and Risk of Diabetic Retinopathy: A Mendelian Randomization Study
Genetically Determined Plasma Lipid Levels and Risk of Diabetic Retinopathy: A Mendelian Randomization Study Open
Results from observational studies examining dyslipidemia as a risk factor for diabetic retinopathy (DR) have been inconsistent. We evaluated the causal relationship between plasma lipids and DR using a Mendelian randomization approach. We…
View article: Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types
Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types Open
Genetics can provide a systematic approach to discovering the tissues and cell types relevant for a complex disease or trait. Identifying these tissues and cell types is critical for following up on non-coding allelic function, developing …
View article: Mixed Model Association with Family-Biased Case-Control Ascertainment
Mixed Model Association with Family-Biased Case-Control Ascertainment Open
Mixed models have become the tool of choice for genetic association studies; however, standard mixed model methods may be poorly calibrated or underpowered under family sampling bias and/or case-control ascertainment. Previously, we introd…