Clonal hematopoiesis in human aging and disease

S Jaiswal, BL Ebert - Science, 2019 - science.org
BACKGROUND Somatic mutations accumulate in normal tissues as a function of time. The
great majority of these mutations have no effect on fitness, so selection does not act upon …

Benefits and limitations of genome-wide association studies

V Tam, N Patel, M Turcotte, Y Bossé, G Paré… - Nature Reviews …, 2019 - nature.com
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …

Prediction of risk for myeloid malignancy in clonal hematopoiesis

LD Weeks, A Niroula, D Neuberg, W Wong… - NEJM …, 2023 - evidence.nejm.org
Background Clonal hematopoiesis of indeterminate potential (CHIP) and clonal cytopenia of
undetermined significance (CCUS) are defined by somatic mutations in genes associated …

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 …

Clonal expansion in non-cancer tissues

N Kakiuchi, S Ogawa - Nature Reviews Cancer, 2021 - nature.com
Cancer is a clonal disorder derived from a single ancestor cell and its progenies that are
positively selected by acquisition of 'driver mutations'. However, the evolution of positively …

Clonal haematopoiesis and dysregulation of the immune system

R Belizaire, WJ Wong, ML Robinette… - Nature Reviews …, 2023 - nature.com
Age-related diseases are frequently linked to pathological immune dysfunction, including
excessive inflammation, autoreactivity and immunodeficiency. Recent analyses of human …

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 …

[HTML][HTML] Single-cell multiomics sequencing reveals prevalent genomic alterations in tumor stromal cells of human colorectal cancer

Y Zhou, S Bian, X Zhou, Y Cui, W Wang, L Wen, L Guo… - Cancer cell, 2020 - cell.com
To what extent stromal cells in the tumor microenvironment (TME) are transformed by
colorectal cancer (CRC) cells is unexplored. To dissect alterations in these non-malignant …

[HTML][HTML] TP53 and Decitabine in Acute Myeloid Leukemia and Myelodysplastic Syndromes

JS Welch, AA Petti, CA Miller, CC Fronick… - … England Journal of …, 2016 - Mass Medical Soc
Background The molecular determinants of clinical responses to decitabine therapy in
patients with acute myeloid leukemia (AML) or myelodysplastic syndromes (MDS) are …

Genetics of MDS

S Ogawa - Blood, The Journal of the American Society of …, 2019 - ashpublications.org
Our knowledge about the genetics of myelodysplastic syndromes (MDS) and related
myeloid disorders has been dramatically improved during the past decade, in which …