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Article
Open AccessProjecting genetic associations through gene expression patterns highlights disease etiology and drug mechanisms
Genes act in concert with each other in specific contexts to perform their functions. Determining how these genes influence complex traits requires a mechanistic understanding of expression regulation across d...
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Article
Open AccessCis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene map** of relevant complex traits
The hypothalamus regulates metabolic homeostasis by influencing behavior and endocrine systems. Given its role governing key traits, such as body weight and reproductive timing, understanding the genetic regul...
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Article
Open AccessIdentification of 22 susceptibility loci associated with testicular germ cell tumors
Testicular germ cell tumors (TGCT) are the most common tumor in young white men and have a high heritability. In this study, the international Testicular Cancer Consortium assemble 10,156 and 179,683 men with ...
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Article
Open AccessMap** effector genes at lupus GWAS loci using promoter Capture-C in follicular helper T cells
Systemic lupus erythematosus (SLE) is mediated by autoreactive antibodies that damage multiple tissues. Genome-wide association studies (GWAS) link >60 loci with SLE risk, but the causal variants and effector ...
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Article
Open AccessGenome-scale Capture C promoter interactions implicate effector genes at GWAS loci for bone mineral density
Osteoporosis is a devastating disease with an essential genetic component. GWAS have discovered genetic signals robustly associated with bone mineral density (BMD), but not the precise localization of effector...
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Article
Positive selection of a gene family during the emergence of humans and African apes
Gene duplication followed by adaptive evolution is one of the primary forces for the emergence of new gene function1. Here we describe the recent proliferation, transposition and selection of a 20-kilobase (kb) d...