Genetic variation across and within individuals

Z Yu, THH Coorens, MM Uddin, KG Ardlie… - Nature Reviews …, 2024 - nature.com
Germline variation and somatic mutation are intricately connected and together shape
human traits and disease risks. Germline variants are present from conception, but they vary …

Clonal haematopoiesis, ageing and kidney disease

C Vlasschaert, MB Lanktree, MJ Rauh… - Nature Reviews …, 2024 - nature.com
Clonal haematopoiesis of indeterminate potential (CHIP) is a preclinical condition wherein a
sizeable proportion of an individual's circulating blood cells are derived from a single …

[HTML][HTML] Cost-effective and scalable clonal hematopoiesis assay provides insight into clonal dynamics

T Mack, C Vlasschaert, K von Beck, AJ Silver… - The Journal of Molecular …, 2024 - Elsevier
Clonal hematopoiesis of indeterminate potential (CHIP) is a common age-related
phenomenon in which hematopoietic stem cells acquire mutations in a select set of genes …

[HTML][HTML] Driver mutation zygosity is a critical factor in predicting clonal hematopoiesis transformation risk

A Kishtagari, MAW Khan, Y Li, C Vlasschaert… - Blood Cancer …, 2024 - nature.com
Clonal hematopoiesis (CH) can be caused by either single gene mutations (eg point
mutations in JAK2 causing CHIP) or mosaic chromosomal alterations (eg, loss of …

[HTML][HTML] Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation …

R Keener, SB Chhetri, CJ Connelly, MA Taub… - Nature …, 2024 - nature.com
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 …

High-risk and silent clonal hematopoietic genotypes in patients with nonhematologic cancer

AJ Stonestrom, KN Menghrajani, SM Devlin… - Blood …, 2024 - ashpublications.org
Clonal hematopoiesis (CH) identified by somatic gene variants with variant allele fraction
(VAF)≥ 2% is associated with an increased risk of hematologic malignancy. However, CH …

Tissue mosaicism following stem cell aging: blood as an exemplar

CD Kapadia, MA Goodell - Nature Aging, 2024 - nature.com
Loss of stem cell regenerative potential underlies aging of all tissues. Somatic mosaicism,
the emergence of cellular patchworks within tissues, increases with age and has been …

[HTML][HTML] Determinants of mosaic chromosomal alteration fitness

Y Pershad, T Mack, H Poisner, YA Jakubek… - Nature …, 2024 - nature.com
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 …

Epigenetic and proteomic signatures associate with clonal hematopoiesis expansion rate

TM Mack, MA Raddatz, Y Pershad, DC Nachun… - Nature Aging, 2024 - nature.com
Clonal hematopoiesis of indeterminate potential (CHIP), whereby somatic mutations in
hematopoietic stem cells confer a selective advantage and drive clonal expansion, not only …

The lifelong natural history of clonal hematopoiesis and its links to myeloid neoplasia

MA Fabre, GS Vassiliou - Blood, 2024 - ashpublications.org
The study of somatic mutations and the associated clonal mosaicism across the human body
has transformed our understanding of aging and its links to cancer. In proliferative human …