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Article
Open AccessGenomic characterization of cervical lymph node metastases in papillary thyroid carcinoma following the Chornobyl accident
Childhood radioactive iodine exposure from the Chornobyl accident increased papillary thyroid carcinoma (PTC) risk. While cervical lymph node metastases (cLNM) are well-recognized in pediatric PTC, the PTC met...
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Article
Genetic drivers and cellular selection of female mosaic X chromosome loss
Mosaic loss of the X chromosome (mLOX) is the most common clonal somatic alteration in leukocytes of female individuals1,2, but little is known about its genetic determinants or phenotypic consequences. Here, to ...
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Article
Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions
Here, in a multi-ancestry genome-wide association study meta-analysis of kidney cancer (29,020 cases and 835,670 controls), we identified 63 susceptibility regions (50 novel) containing 108 independent risk lo...
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Article
Open AccessFORGEdb: a tool for identifying candidate functional variants and uncovering target genes and mechanisms for complex diseases
The majority of disease-associated variants identified through genome-wide association studies are located outside of protein-coding regions. Prioritizing candidate regulatory variants and gene targets to iden...
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Article
Open AccessMosaic chromosomal alterations in peripheral blood leukocytes of children in sub-Saharan Africa
In high-income countries, mosaic chromosomal alterations in peripheral blood leukocytes are associated with an elevated risk of adverse health outcomes, including hematologic malignancies. We investigate mosai...
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Article
Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants
The transferability and clinical value of genetic risk scores (GRSs) across populations remain limited due to an imbalance in genetic studies across ancestrally diverse populations. Here we conducted a multi-a...
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Article
Open AccessIdentification of novel genetic loci for risk of multiple myeloma by functional annotation
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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 AccessShared and distinct genetic etiologies for different types of clonal hematopoiesis
Clonal hematopoiesis (CH)—age-related expansion of mutated hematopoietic clones—can differ in frequency and cellular fitness by CH type (e.g., mutations in driver genes (CHIP), gains/losses and copy-neutral lo...
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Article
Open AccessIncrease in power by obtaining 10 or more controls per case when type-1 error is small in large-scale association studies
The rule of thumb that there is little gain in statistical power by obtaining more than 4 controls per case, is based on type-1 error α = 0.05. However, association studies that evaluate thousands or millions ...
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Article
Open AccessGenetically adjusted PSA levels for prostate cancer screening
Prostate-specific antigen (PSA) screening for prostate cancer remains controversial because it increases overdiagnosis and overtreatment of clinically insignificant tumors. Accounting for genetic determinants ...
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Article
Open AccessGenome-wide association study of lung adenocarcinoma in East Asia and comparison with a European population
Lung adenocarcinoma is the most common type of lung cancer. Known risk variants explain only a small fraction of lung adenocarcinoma heritability. Here, we conducted a two-stage genome-wide association study o...
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Article
Open AccessGWAS Explorer: an open-source tool to explore, visualize, and access GWAS summary statistics in the PLCO Atlas
The Prostate, Lung, Colorectal and Ovarian (PLCO) Cancer Screening Trial is a prospective cohort study of nearly 155,000 U.S. volunteers aged 55–74 at enrollment in 1993–2001. We developed the PLCO Atlas Proje...
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Article
Open AccessGermline-somatic JAK2 interactions are associated with clonal expansion in myelofibrosis
Myelofibrosis is a rare myeloproliferative neoplasm (MPN) with high risk for progression to acute myeloid leukemia. Our integrated genomic analysis of up to 933 myelofibrosis cases identifies 6 germline suscep...
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Article
Open AccessAuthorArranger automates formatting title pages and author affiliations for manuscript submissions
Scientific investigations are becoming increasingly collaborative resulting in growing lists of contributors to studies that can be time consuming to organize when formatting journal title pages. Here we prese...
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Article
Open AccessThe renal lineage factor PAX8 controls oncogenic signalling in kidney cancer
Large-scale human genetic data1–3 have shown that cancer mutations display strong tissue-selectivity, but how this selectivity arises remains unclear. Here, using experimental models, functional genomics and anal...
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Article
Open AccessLDexpress: an online tool for integrating population-specific linkage disequilibrium patterns with tissue-specific expression data
Genome-wide association studies have identified thousands of genetic susceptibility loci associated with cancer as well as other traits and diseases. Map** germline variation in identified genetic susceptibi...
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Article
Open AccessClonal hematopoiesis is associated with risk of severe Covid-19
Acquired somatic mutations in hematopoietic stem and progenitor cells (clonal hematopoiesis or CH) are associated with advanced age, increased risk of cardiovascular and malignant diseases, and decreased overa...
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Article
Open AccessIncident disease associations with mosaic chromosomal alterations on autosomes, X and Y chromosomes: insights from a phenome-wide association study in the UK Biobank
Mosaic chromosomal alterations (mCAs) are large chromosomal gains, losses and copy-neutral losses of heterozygosity (LOH) in peripheral leukocytes. While many individuals with detectable mCAs have no notable a...
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Article
Open AccessPrognostic impact of pre-transplant chromosomal aberrations in peripheral blood of patients undergoing unrelated donor hematopoietic cell transplant for acute myeloid leukemia
To improve risk stratification and treatment decisions for patients with acute myeloid leukemia (AML) undergoing hematopoietic cell transplantation (HCT). We used SNP-array data from the DISCOVeRY-BMT study to...