85 Result(s)

Article

Machine learning models for predicting blood pressure phenotypes by combining multiple polygenic risk scores

We construct non-linear machine learning (ML) prediction models for systolic and diastolic blood pressure (SBP, DBP) using demographic and clinical variables and polygenic risk scores (PRSs). We developed a tw...

Yana Hrytsenko, Benjamin Shea, Michael Elgart, Nuzulul Kurniansyah… in Scientific Reports (2024)

Article

Validation 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...

Rebecca Keener, Surya B. Chhetri, Carla J. Connelly… in Nature Communications (2024)

Article

Determinants 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 ...

Yash Pershad, Taralynn Mack, Hannah Poisner, Yasminka A. Jakubek… in Nature Communications (2024)

Article

Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications

To date only a fraction of the genetic footprint of thyroid function has been clarified. We report a genome-wide association study meta-analysis of thyroid function in up to 271,040 individuals of European anc...

Rosalie B. T. M. Sterenborg, Inga Steinbrenner, Yong Li… in Nature Communications (2024)

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

Evaluating the use of blood pressure polygenic risk scores across race/ethnic background groups

We assess performance and limitations of polygenic risk scores (PRSs) for multiple blood pressure (BP) phenotypes in diverse population groups. We compare “clum**-and-thresholding” (PRSice2) and LD-based (LD...

Nuzulul Kurniansyah, Matthew O. Goodman, Alyna T. Khan… in Nature Communications (2023)

Article

Associations of genome-wide and regional autozygosity with 96 complex traits in old order Amish

Background: Autozygosity, the proportion of the genome that is homozygous by descent, has been associated with variation in multiple health-related traits impacting evolutionary fitness. Autozygosity (FROH) is ty...

Megan T. Lynch, Kristin A. Maloney, Huichun Xu, James A. Perry… in BMC Genomics (2023)

Article

Whole 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...

Marsha M. Wheeler, Adrienne M. Stilp, Shuquan Rao… in Nature Communications (2022)

Article

Genetic diversity fuels gene discovery for tobacco and alcohol use

Tobacco and alcohol use are heritable behaviours associated with 15% and 5.3% of worldwide deaths, respectively, due largely to broad increased risk for disease and injury^1–4. These substances are used across the...

Gretchen R. B. Saunders, **ngyan Wang, Fang Chen, Seon-Kyeong Jang, Mengzhen Liu… in Nature (2022)

Article

Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries

Aniket Mishra, Rainer Malik, Tsuyoshi Hachiya, Tuuli Jürgenson, Shinichi Namba… in Nature (2022)

Article

Stroke genetics informs drug discovery and risk prediction across ancestries

Previous genome-wide association studies (GWASs) of stroke — the second leading cause of death worldwide — were conducted predominantly in populations of European ancestry^1,2. Here, in cross-ancestry GWAS meta-an...

Aniket Mishra, Rainer Malik, Tsuyoshi Hachiya, Tuuli Jürgenson, Shinichi Namba… in Nature (2022)

Article

Whole genome sequence analysis of blood lipid levels in >66,000 individuals

Blood lipids are heritable modifiable causal factors for coronary artery disease. Despite well-described monogenic and polygenic bases of dyslipidemia, limitations remain in discovery of lipid-associated allel...

Margaret Sunitha Selvaraj, **hao Li, Zilin Li, Akhil Pampana… in Nature Communications (2022)

Article

A saturated map of common genetic variants associated with human height

Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sa...

Loïc Yengo, Sailaja Vedantam, Eirini Marouli, Julia Sidorenko, Eric Bartell… in Nature (2022)

Article

Publisher Correction: Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes

Jennifer L. Halford, Valerie N. Morrill, Seung Hoan Choi… in Nature Communications (2022)

Article

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes

Accurate and efficient classification of variant pathogenicity is critical for research and clinical care. Using data from three large studies, we demonstrate that population-based associations between rare va...

Jennifer L. Halford, Valerie N. Morrill, Seung Hoan Choi… in Nature Communications (2022)