37 Result(s)
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Terri H Beaty
Human Genetics
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Article
Author Correction: New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries
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Article
Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes
As one of the most common structural birth defects, orofacial clefts (OFCs) have been studied for decades, and recent studies have demonstrated that there are genetic differences between the different phenotyp...
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Article
Open AccessWhole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21
Orofacial clefts (OFCs) are among the most prevalent craniofacial birth defects worldwide and create a significant public health burden. The majority of OFCs are non-syndromic, and the genetic etiology of non-...
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Article
Open AccessReplicated methylation changes associated with eczema herpeticum and allergic response
Although epigenetic mechanisms are important risk factors for allergic disease, few studies have evaluated DNA methylation differences associated with atopic dermatitis (AD), and none has focused on AD with ec...
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Article
Author Correction: New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries
An amendment to this paper has been published and can be accessed via a link at the top of the paper
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Article
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries
Reduced lung function predicts mortality and is key to the diagnosis of chronic obstructive pulmonary disease (COPD). In a genome-wide association study in 400,102 individuals of European ancestry, we define 2...
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Article
Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations
Chronic obstructive pulmonary disease (COPD) is the leading cause of respiratory mortality worldwide. Genetic risk loci provide new insights into disease pathogenesis. We performed a genome-wide association st...
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Article
Author Correction: Assembly of a pan-genome from deep sequencing of 910 humans of African descent
In the version of this article initially published, the statement “there are no pan-genomes for any other animal or plant species” was incorrect. The statement has been corrected to “there are no reported pan-...
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Article
Open AccessAssembly of a pan-genome from deep sequencing of 910 humans of African descent
We used a deeply sequenced dataset of 910 individuals, all of African descent, to construct a set of DNA sequences that is present in these individuals but missing from the reference human genome. We aligned 1...
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Article
Genomics and response to long-term oxygen therapy in chronic obstructive pulmonary disease
Chronic obstructive pulmonary disease (COPD) is a leading cause of death worldwide, and long-term oxygen therapy has been shown to reduce mortality in COPD patients with severe hypoxemia. However, the Long-ter...
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Article
Genotype imputation performance of three reference panels using African ancestry individuals
Genotype imputation estimates unobserved genotypes from genome-wide makers, to increase genome coverage and power for genome-wide association studies. Imputation has been successful for European ancestry popul...
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Article
Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks
We examined common variation in asthma risk by conducting a meta-analysis of worldwide asthma genome-wide association studies (23,948 asthma cases, 118,538 controls) of individuals from ethnically diverse popu...
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Article
Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate
Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial birth defects with complex etiologies that include genetic and environmental risk factors. OFCs are commonly categorized as...
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Article
Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis
Michael Cho and colleagues report a genome-wide association study of risk for chronic obstructive pulmonary disease (COPD) in a large, multi-ancestry cohort. They identify 22 genome-wide significant loci, incl...
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Article
Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets
Louise Wain, Ian Hall, Martin Tobin and colleagues report genome-wide association analyses of lung function, identifying 43 new signals associated with one or more lung function traits. A genetic risk score de...
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Detecting Familial Aggregation
In addition to characterizing the distribution of genetic features of populations (mutation and allele frequencies; measures of Hardy–Weinberg equilibrium), genetic epidemiology and statistical genetics aim to...
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Article
Open AccessIntegrated genome-wide association, coexpression network, and expression single nucleotide polymorphism analysis identifies novel pathway in allergic rhinitis
Allergic rhinitis is a common disease whose genetic basis is incompletely explained. We report an integrated genomic analysis of allergic rhinitis.
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Dissecting direct and indirect genetic effects on chronic obstructive pulmonary disease (COPD) susceptibility
Cigarette smoking is the major environmental risk factor for chronic obstructive pulmonary disease (COPD). Genome-wide association studies have provided compelling associations for three loci with COPD. In thi...
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Article
Genome-wide study identifies two loci associated with lung function decline in mild to moderate COPD
Accelerated lung function decline is a key COPD phenotype; however, its genetic control remains largely unknown. We performed a genome-wide association study using the Illumina Human660W-Quad v.1_A BeadChip. G...
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Article
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci
Elisabeth Mangold and colleagues report a genome-wide meta-analyses of non-syndromic cleft lip with or without cleft palate (NSCL/P). They report six new genetic loci associated with risk for NSCL/P.
