-
Article
Open AccessMulti-omics in nasal epithelium reveals three axes of dysregulation for asthma risk in the African Diaspora populations
Asthma has striking disparities across ancestral groups, but the molecular underpinning of these differences is poorly understood and minimally studied. A goal of the Consortium on Asthma among African-ancestr...
-
Article
Author Correction: New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries
-
Article
Open AccessXanthine oxidoreductase gene polymorphisms are associated with high risk of sepsis and organ failure
Sepsis and associated organ failures confer substantial morbidity and mortality. Xanthine oxidoreductase (XOR) is implicated in the development of tissue oxidative damage in a wide variety of respiratory and c...
-
Article
Open AccessX chromosome associations with chronic obstructive pulmonary disease and related phenotypes: an X chromosome-wide association study
The association between genetic variants on the X chromosome to risk of COPD has not been fully explored. We hypothesize that the X chromosome harbors variants important in determining risk of COPD related phe...
-
Article
Open AccessWhole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate
The majority (85%) of nonsyndromic cleft lip with or without cleft palate (nsCL/P) cases occur sporadically, suggesting a role for de novo mutations (DNMs) in the etiology of nsCL/P. To identify high impact pr...
-
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-...
-
Article
Open AccessAuthor Correction: Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
-
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...
-
Article
Open AccessDSP variants may be associated with longitudinal change in quantitative emphysema
Emphysema, characterized by lung destruction, is a key component of Chronic Obstructive Pulmonary Disease (COPD) and is associated with increased morbidity and mortality. Genome-wide association studies (GWAS)...
-
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
-
Article
Open AccessAssociation study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations
Asthma is a complex disease with striking disparities across racial and ethnic groups. Despite its relatively high burden, representation of individuals of African ancestry in asthma genome-wide association st...
-
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-...
-
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...
-
Article
Open AccessChildhood asthma is associated with COPD and known asthma variants in COPDGene: a genome-wide association study
Childhood asthma is strongly influenced by genetics and is a risk factor for reduced lung function and chronic obstructive pulmonary disease (COPD) in adults. This study investigates self-reported childhood as...
-
Article
Open AccessIntegration of Molecular Interactome and Targeted Interaction Analysis to Identify a COPD Disease Network Module
The polygenic nature of complex diseases offers potential opportunities to utilize network-based approaches that leverage the comprehensive set of protein-protein interactions (the human interactome) to identi...
-
Article
Open AccessThe genetics of smoking in individuals with chronic obstructive pulmonary disease
Smoking is the principal modifiable environmental risk factor for chronic obstructive pulmonary disease (COPD) which affects 300 million people and is the 3rd leading cause of death worldwide. Most of the gene...
-
Article
Open AccessGenome-wide approach identifies a novel gene-maternal pre-pregnancy BMI interaction on preterm birth
Preterm birth (PTB) contributes significantly to infant mortality and morbidity with lifelong impact. Few robust genetic factors of PTB have been identified. Such ‘missing heritability’ may be partly due to ge...
-
Article
Open AccessIdentifying tagging SNPs for African specific genetic variation from the African Diaspora Genome
A primary goal of The C onsortium on A sthma among A frican-ancestry P opulations in the A mericas (CAAPA) is to develop an ‘African Diaspora Power Chip’ (ADPC), a genoty** array consisting of tagging SNPs, use...
-
Article
Open AccessIdentification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting
Genome-wide association studies (GWAS) do not distinguish between single nucleotide polymorphisms (SNPs) that are causal and those that are merely in linkage-disequilibrium with causal mutations. Here we descr...
-
Article
Open AccessGenome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity
Non-syndromic cleft lip with palate (NSCLP) is the most serious sub-phenotype of non-syndromic orofacial clefts (NSOFC), which are the most common craniofacial birth defects in humans. Here we conduct a GWAS o...
