33 Result(s)
within
Guillaume Lettre
Biomedicine
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Article
Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification
CRISPR base editing screens enable analysis of disease-associated variants at scale; however, variable efficiency and precision confounds the assessment of variant-induced phenotypes. Here, we provide an integ...
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Article
One step closer to linking GWAS SNPs with the right genes
A new study highlights a strategy to link SNPs implicated in human complex traits and diseases with probable causal genes. This method prioritizes genes for functional characterization and helps address questi...
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Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect
The heart muscle diseases hypertrophic (HCM) and dilated (DCM) cardiomyopathies are leading causes of sudden death and heart failure in young, otherwise healthy, individuals. We conducted genome-wide associati...
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Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
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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Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution
Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 22...
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Article
Open AccessPHACTR1 splicing isoforms and eQTLs in atherosclerosis-relevant human cells
Genome-wide association studies (GWAS) have identified a variant (rs9349379) at the phosphatase and actin regulator 1 (PHACTR1) locus that is associated with coronary artery disease (CAD). The same variant is als...
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Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
In the version of this article originally published, one of the two authors with the name Wei Zhao was omitted from the author list and the affiliations for both authors were assigned to the single Wei Zhao in...
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Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
In the published version of this paper, the name of author Emanuele Di Angelantonio was misspelled. This error has now been corrected in the HTML and PDF versions of the article.
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Article
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants fro...
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Article
The osteoarthritis and height GDF5 locus yields its secrets
A new study reports molecular characterization of the GDF5 locus, which is associated with osteoarthritis risk and adult height in humans. This study provides evidence of positive selection for short stature at G...
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Article
Variant-aware saturating mutagenesis using multiple Cas9 nucleases identifies regulatory elements at trait-associated loci
Stuart Orkin, Daniel Bauer and colleagues present DNA Striker, a computational tool to design variant-aware saturating-mutagenesis screens with multiple CRISPR-associated nucleases. They apply their methodology t...
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Article
Whole-genome sequencing in French Canadians from Quebec
Genome-wide association studies (GWAS) have had a tremendous success in the identification of common DNA sequence variants associated with complex human diseases and traits. However, because of their design, G...
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Small island, big genetic discoveries
Three new studies have identified new genes and sequence variants implicated in blood lipids, inflammatory markers, hemoglobin levels and adult height variation in Sardinia. These reports highlight the usefuln...
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Open AccessRare variant association studies: considerations, challenges and opportunities
Genome-wide association studies (GWASs) have successfully uncovered thousands of robust associations between common variants and complex traits and diseases. Despite these successes, much of the heritability o...
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Open AccessComparison of DNA methylation profiles in human fetal and adult red blood cell progenitors
DNA methylation is an epigenetic modification that plays an important role during mammalian development. Around birth in humans, the main site of red blood cell production moves from the fetal liver to the bon...
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Article
Defining the role of common variation in the genomic and biological architecture of adult human height
Timothy Frayling, Joel Hirschhorn, Peter Visscher and colleagues report a meta-analysis of genome-wide association studies for adult height in 253,288 individuals. They identify 697 variants in 423 loci signif...
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Large multiethnic Candidate Gene Study for C-reactive protein levels: identification of a novel association at CD36 in African Americans
C-reactive protein (CRP) is a heritable biomarker of systemic inflammation and a predictor of cardiovascular disease (CVD). Large-scale genetic association studies for CRP have largely focused on individuals o...
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Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits
Guillaume Lettre, Alexander Reiner, George Diaz and colleagues use an exome array to identify rare and low-frequency coding variants influencing hematological traits. They find several missense variants in CXCR2
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Article
A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry
Keri Monda, Kari North, Christopher Haiman and colleagues report a meta-analysis of GWAS for body mass index that is composed of 39,144 individuals of African ancestry, followed by further genoty** in 32,268...
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Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution
Nat. Genet. 42, 949–960 (2010); published online 10 October 2010; corrected after print 12 October 2011 In the version of this article initially published, there were errors in Table 1. Specifically, for eight...
