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Article
Epigenetic and proteomic signatures associate with clonal hematopoiesis expansion rate
Clonal hematopoiesis of indeterminate potential (CHIP), whereby somatic mutations in hematopoietic stem cells confer a selective advantage and drive clonal expansion, not only correlates with age but also conf...
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Article
Open AccessValidation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes
Genome-wide association studies (GWAS) have become well-powered to detect loci associated with telomere length. However, no prior work has validated genes nominated by GWAS to examine their role in telomere le...
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Article
Open AccessDeterminants of mosaic chromosomal alteration fitness
Clonal hematopoiesis (CH) is characterized by the acquisition of a somatic mutation in a hematopoietic stem cell that results in a clonal expansion. These driver mutations can be single nucleotide variants in ...
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Article
Open AccessImproving polygenic risk prediction in admixed populations by explicitly modeling ancestral-differential effects via GAUDI
Polygenic risk scores (PRS) have shown successes in clinics, but most PRS methods focus only on participants with distinct primary continental ancestry without accommodating recently-admixed individuals with m...
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Article
Open AccessMosaic chromosomal alterations in blood across ancestries using whole-genome sequencing
Megabase-scale mosaic chromosomal alterations (mCAs) in blood are prognostic markers for a host of human diseases. Here, to gain a better understanding of mCA rates in genetically diverse populations, we analy...
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Article
Open AccessDeleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality
Mitochondria carry their own circular genome and disruption of the mitochondrial genome is associated with various aging-related diseases. Unlike the nuclear genome, mitochondrial DNA (mtDNA) can be present at...
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Article
Nonlinear Estimation Methods for Mendelian Randomization in Genetic Studies
Mendelian Randomization is a very popular method to estimate causal effects in genomic studies. Recently, there has been much research in instrumental variable (IV) selection. However, these works rely on a li...
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Article
Open AccessA genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry
Genome-wide studies of gene–environment interactions (G×E) may identify variants associated with disease risk in conjunction with lifestyle/environmental exposures. We conducted a genome-wide G×E analysis of ~...
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Article
Open AccessComparison of multiple imputation and other methods for the analysis of imputed genotypes
Analysis of imputed genotypes is an important and routine component of genome-wide association studies and the increasing size of imputation reference panels has facilitated the ability to impute and test low-...
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Article
Open AccessWhole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program
Genome-wide association studies have identified thousands of single nucleotide variants and small indels that contribute to variation in hematologic traits. While structural variants are known to cause rare bl...
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Article
Finding causal genes underlying risk for coronary artery disease
Previous genome-wide association studies of coronary artery disease (CAD) have discovered multiple susceptibility loci but have largely failed to uncover causal genes. A new study identifies hundreds of likely...
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Article
Contemporary evaluation of estrogen receptor and progesterone receptor expression in breast cancer-associated stroma
To investigate nuclear estrogen receptor α (ERα) and progesterone receptor (PR) immunohistochemistry (IHC) patterns in the stroma surrounding invasive carcinoma and assess associations with clinicopathologic f...
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Article
A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies
Large-scale whole-genome sequencing studies have enabled analysis of noncoding rare-variant (RV) associations with complex human diseases and traits. Variant-set analysis is a powerful approach to study RV ass...
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Article
Open AccessGenome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women
Use of menopausal hormone therapy (MHT) is associated with increased risk for breast cancer. However, the relevant mechanisms and its interaction with genetic variants are not fully understood. We conducted a ...
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Article
Open AccessCommon variants in breast cancer risk loci predispose to distinct tumor subtypes
Genome-wide association studies (GWAS) have identified multiple common breast cancer susceptibility variants. Many of these variants have differential associations by estrogen receptor (ER) status, but how the...
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Article
Open AccessCorrection to: Multi-ethnic genome-wide association analyses of white blood cell and platelet traits in the Population Architecture using Genomics and Epidemiology (PAGE) Study
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Article
Open AccessAssociation of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment
Given the high heterogeneity among breast tumors, associations between common germline genetic variants and survival that may exist within specific subgroups could go undetected in an unstratified set of breas...
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Article
Open AccessMulti-ethnic genome-wide association analyses of white blood cell and platelet traits in the Population Architecture using Genomics and Epidemiology (PAGE) study
Circulating white blood cell and platelet traits are clinically linked to various disease outcomes and differ across individuals and ancestry groups. Genetic factors play an important role in determining these...
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Article
Publisher Correction: Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
A Correction to this paper has been published: https://doi.org/10.1038/s41588-021-00832-z.
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Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes
A Correction to this paper has been published: https://doi.org/10.1038/s41586-021-03280-1.
