A pan-tissue survey of mosaic chromosomal alterations in 948 individuals

T Gao, ME Kastriti, V Ljungström, A Heinzel… - Nature …, 2023 - nature.com
Genetic mutations accumulate in an organism's body throughout its lifetime. While somatic
single-nucleotide variants have been well characterized in the human body, the patterns …

Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencing

YA Jakubek, Y Zhou, A Stilp, J Bacon, JW Wong… - Nature …, 2023 - nature.com
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 …

Somatic mosaic chromosomal alterations and death of cardiovascular disease causes among cancer survivors

M Sun, MC Cyr, J Sandoval… - … Biomarkers & Prevention, 2023 - AACR
Background: Cancer survivors are at an increased risk of cardiovascular disease (CVD)
compared with the general population. We sought to evaluate the impact of mosaic …

Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

SM Zekavat, SH Lin, AG Bick, A Liu, K Paruchuri… - Nature medicine, 2021 - nature.com
Age is the dominant risk factor for infectious diseases, but the mechanisms linking age to
infectious disease risk are incompletely understood. Age-related mosaic chromosomal …

Mosaic chromosomal alterations in hematopoietic cells and clinical outcomes in patients with multiple myeloma

S Husby, M Tulstrup, M Harsløf, C Nielsen, E Haastrup… - Leukemia, 2024 - nature.com
Mosaic chromosomal alterations (mCAs) in hematopoietic cells increase mortality and risk of
hematological cancers and infections. We investigated the landscape of mCAs and their …

Predictors of mosaic chromosome Y loss and associations with mortality in the UK Biobank

E Loftfield, W Zhou, BI Graubard, M Yeager… - Scientific Reports, 2018 - nature.com
Mosaic loss of the Y chromosome (mLOY) is the most commonly reported large structural
somatic event. Previous studies have indicated age and cigarette smoking increase the risk …

Mutation rates and fitness consequences of mosaic chromosomal alterations in blood

CJ Watson, JR Blundell - Nature genetics, 2023 - nature.com
Mosaic chromosomal alterations (mCAs) are common in cancers and can arise decades
before diagnosis. A quantitative understanding of the rate at which these events occur, and …

Characterizing mutational load and clonal composition of human blood

AR Huber, F Manders, R Oka, R van Boxtel - JoVE (Journal of Visualized …, 2019 - jove.com
Hematopoietic stem and progenitor cells (HSPCs) gradually accumulate DNA mutations
during a lifespan, which can contribute to age-associated diseases such as leukemia …

Clonal hematopoiesis analyses in clinical, epidemiologic, and genetic aging studies to unravel underlying mechanisms of age-related dysfunction in humans

K Walsh, N Raghavachari, C Kerr, AG Bick… - Frontiers in …, 2022 - frontiersin.org
Aging is characterized by increased mortality, functional decline, and exponential increases
in the incidence of diseases such as cancer, stroke, cardiovascular disease, neurological …

Distinction of lymphoid and myeloid clonal hematopoiesis

A Niroula, A Sekar, MA Murakami, M Trinder… - Nature medicine, 2021 - nature.com
Clonal hematopoiesis (CH) results from somatic genomic alterations that drive clonal
expansion of blood cells. Somatic gene mutations associated with hematologic …