47 Result(s)

Article

Genomic 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...

Lindsay M. Morton, Olivia W. Lee, Danielle M. Karyadi… in Nature Communications (2024)

Article

FORGEdb: 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...

Charles E. Breeze, Eric Haugen, María Gutierrez-Arcelus, **aozheng Yao… in Genome Biology (2024)

Article

Mosaic 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...

Weiyin Zhou, Anja Fischer, Martin D. Ogwang, Wen Luo… in Nature Communications (2023)

Article

Identification of novel genetic loci for risk of multiple myeloma by functional annotation

Angelica Macauda, Klara Briem, Alyssa Clay-Gilmour, Wendy Cozen, Asta Försti… in Leukemia (2023)

Article

Mosaic 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...

Yasminka A. Jakubek, Ying Zhou, Adrienne Stilp, Jason Bacon… in Nature Genetics (2023)

Article

Shared 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...

Derek W. Brown, Liam D. Cato, Yajie Zhao, Satish K. Nandakumar… in Nature Communications (2023)

Article

Increase 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 ...

Hormuzd A. Katki, Sonja I. Berndt, Mitchell J. Machiela… in BMC Medical Research Methodology (2023)

Article

Genetically 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 ...

Linda Kachuri, Thomas J. Hoffmann, Yu Jiang, Sonja I. Berndt… in Nature Medicine (2023)

Article

Genome-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...

Jianxin Shi, Kouya Shiraishi, Jiyeon Choi, Keitaro Matsuo… in Nature Communications (2023)

Article

GWAS 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...

Mitchell J. Machiela, Wen-Yi Huang, Wendy Wong, Sonja I. Berndt… in Scientific Data (2023)

Article

Germline-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...

Derek W. Brown, Weiyin Zhou, You** Wang, Kristine Jones, Wen Luo… in Nature Communications (2022)

Article

AuthorArranger 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...

Mitchell J. Machiela, Geoffrey Tobias in Communications Biology (2022)

Article

The renal lineage factor PAX8 controls oncogenic signalling in kidney cancer

Large-scale human genetic data^1–3 have shown that cancer mutations display strong tissue-selectivity, but how this selectivity arises remains unclear. Here, using experimental models, functional genomics and anal...

Saroor A. Patel, Shoko Hirosue, Paulo Rodrigues, Erika Vojtasova… in Nature (2022)

Article

LDexpress: 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...

Shu-Hong Lin, Rohit Thakur, Mitchell J. Machiela in BMC Bioinformatics (2021)

Article

Clonal 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...

Kelly L. Bolton, Youngil Koh, Michael B. Foote, Hogune Im… in Nature Communications (2021)

Article

Incident 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...

Shu-Hong Lin, Derek W. Brown, Brandon Rose, Felix Day, Olivia W. Lee… in Cell & Bioscience (2021)

Article

Prognostic 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...

You** Wang, Weiyin Zhou, Lisa J. McReynolds, Hormuzd A. Katki… in Scientific Reports (2021)