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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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Open AccessImplicating effector genes at COVID-19 GWAS loci using promoter-focused Capture-C in disease-relevant immune cell types
SARS-CoV-2 infection results in a broad spectrum of COVID-19 disease, from mild or no symptoms to hospitalization and death. COVID-19 disease severity has been associated with some pre-existing conditions and ...
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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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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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Open AccessGenome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual
Bone accrual impacts lifelong skeletal health, but genetic discovery has been primarily limited to cross-sectional study designs and hampered by uncertainty about target effector genes. Here, we capture this d...
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Open AccessAn evolutionary driver of interspersed segmental duplications in primates
The complex interspersed pattern of segmental duplications in humans is responsible for rearrangements associated with neurodevelopmental disease, including the emergence of novel genes important in human brai...
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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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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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Leveraging epigenomics and contactomics data to investigate SNP pairs in GWAS
Although Genome Wide Association Studies (GWAS) have led to many valuable insights into the genetic bases of common diseases over the past decade, the issue of missing heritability has surfaced, as the discove...
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The type 2 diabetes presumed causal variant within TCF7L2 resides in an element that controls the expression of ACSL5
One of the most strongly associated type 2 diabetes loci reported to date resides within the TCF7L2 gene. Previous studies point to the T allele of rs7903146 in intron 3 as the causal variant at this locus. We ai...
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A ChIP-seq-Defined Genome-Wide Map of MEF2C Binding Reveals Inflammatory Pathways Associated with Its Role in Bone Density Determination
Genome-wide association studies (GWAS) have demonstrated that genetic variation at the MADS box transcription enhancer factor 2, polypeptide C (MEF2C) locus is robustly associated with bone mineral density, prima...
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Open AccessA specific family of interspersed repeats (SINEs) facilitates meiotic synapsis in mammals
Errors during meiosis that affect synapsis and recombination between homologous chromosomes contribute to aneuploidy and infertility in humans. Despite the clinical relevance of these defects, we know very lit...
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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...
