Germline risk of clonal haematopoiesis

AJ Silver, AG Bick, MR Savona - Nature Reviews Genetics, 2021 - nature.com
Clonal haematopoiesis (CH) is a common, age-related expansion of blood cells with
somatic mutations that is associated with an increased risk of haematological malignancies …

Clonal hematopoiesis and its impact on human health

H Ahmad, N Jahn, S Jaiswal - Annual Review of Medicine, 2023 - annualreviews.org
Aging is associated with increased mutational burden in every tissue studied. Occasionally,
fitness-increasing mutations will arise, leading to stem cell clonal expansion. This process …

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

AG Bick, JS Weinstock, SK Nandakumar, CP Fulco… - Nature, 2020 - nature.com
Age is the dominant risk factor for most chronic human diseases, but the mechanisms
through which ageing confers this risk are largely unknown. The age-related acquisition of …

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 …

Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis

SN Stacey, F Zink, GH Halldorsson, L Stefansdottir… - Nature Genetics, 2023 - nature.com
Clonal hematopoiesis (CH) arises when a substantial proportion of mature blood cells is
derived from a single hematopoietic stem cell lineage. Using whole-genome sequencing of …

Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations

PR Loh, G Genovese, RE Handsaker, HK Finucane… - Nature, 2018 - nature.com
The selective pressures that shape clonal evolution in healthy individuals are largely
unknown. Here we investigate 8,342 mosaic chromosomal alterations, from 50 kb to 249 Mb …

[HTML][HTML] LDlinkR: an R package for rapidly calculating linkage disequilibrium statistics in diverse populations

TA Myers, SJ Chanock, MJ Machiela - Frontiers in genetics, 2020 - frontiersin.org
Genomic research involving human genetics and evolutionary biology relies heavily on
linkage disequilibrium (LD) to investigate population-specific genetic structure, functionally …

Genetic predisposition to mosaic Y chromosome loss in blood

DJ Thompson, G Genovese, J Halvardson, JC Ulirsch… - Nature, 2019 - nature.com
Mosaic loss of chromosome Y (LOY) in circulating white blood cells is the most common
form of clonal mosaicism,,,–, yet our knowledge of the causes and consequences of this is …

Chromosomal alterations among age-related haematopoietic clones in Japan

C Terao, A Suzuki, Y Momozawa, M Akiyama… - Nature, 2020 - nature.com
The extent to which the biology of oncogenesis and ageing are shaped by factors that
distinguish human populations is unknown. Haematopoietic clones with acquired mutations …

Lack of transgenerational effects of ionizing radiation exposure from the Chernobyl accident

M Yeager, MJ Machiela, P Kothiyal, M Dean… - Science, 2021 - science.org
Effects of radiation exposure from the Chernobyl nuclear accident remain a topic of interest.
We investigated germline de novo mutations (DNMs) in children born to parents employed …