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Article
Genotype × environment interactions in gene regulation and complex traits
Genotype × environment interactions (GxE) have long been recognized as a key mechanism underlying human phenotypic variation. Technological developments over the past 15 years have dramatically expanded our ap...
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Article
Open AccessCorrection: The heart of Detroit study: a window into urban middle-aged and older African Americans’ daily lives to understand psychosocial determinants of cardiovascular disease risk
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Article
Open AccessThe heart of Detroit study: a window into urban middle-aged and older African Americans’ daily lives to understand psychosocial determinants of cardiovascular disease risk
Cardiovascular disease disproportionately affects African Americans. Psychosocial factors, including the experience of and emotional reactivity to racism and interpersonal stressors, contribute to the etiology...
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Article
Open AccessSingle nucleus transcriptomics of ventral midbrain identifies glial activation associated with chronic opioid use disorder
Dynamic interactions of neurons and glia in the ventral midbrain mediate reward and addiction behavior. We studied gene expression in 212,713 ventral midbrain single nuclei from 95 individuals with history of ...
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Article
Open AccessDissecting human population variation in single-cell responses to SARS-CoV-2
Humans display substantial interindividual clinical variability after SARS-CoV-2 infection1–3, the genetic and immunological basis of which has begun to be deciphered4. However, the extent and drivers of populati...
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Article
Open AccessAnalysis of transcriptional changes in the immune system associated with pubertal development in a longitudinal cohort of children with asthma
Puberty is an important developmental period marked by hormonal, metabolic and immune changes. Puberty also marks a shift in sex differences in susceptibility to asthma. Yet, little is known about the gene exp...
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Article
Open AccessPTWAS: investigating tissue-relevant causal molecular mechanisms of complex traits using probabilistic TWAS analysis
We propose a new computational framework, probabilistic transcriptome-wide association study (PTWAS), to investigate causal relationships between gene expressions and complex traits. PTWAS applies the establis...
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Article
Open AccessDifferentially expressed gene networks, biomarkers, long noncoding RNAs, and shared responses with cocaine identified in the midbrains of human opioid abusers
Opioid abuse is now the most common cause of accidental death in the US. Although opioids and most other drugs of abuse acutely increase signaling mediated by midbrain dopamine (DA)-synthesizing neurons, littl...
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Article
Open AccessRNA-sequencing Identifies Novel Pathways in Sarcoidosis Monocytes
Sarcoidosis is a complex systemic granulomatous disorder of unknown etiology. Genome-wide association studies have not been able to explain a causative role for nucleotide variation in its pathogenesis. The go...
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Protocol
Allelic Imbalance Assays to Quantify Allele-Specific Gene Expression and Transcription Factor Binding
A growing number of noncoding variants are found to influence the susceptibility to common diseases and interindividual variation in drug response. However, the mechanisms by which noncoding variation affects ...
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Article
Independent methods for evolutionary genetic dating provide insights into Y-chromosomal STR mutation rates confirming data from direct father–son transmissions
Five datasets consisting of samples jointly typed for Y-chromosomal Unique Event Polymorphism (UEP) and simple tandem repeat (STR) markers were re-examined with independent methods for dating the different UEP...
