Genetic variation across and within individuals
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 …
human traits and disease risks. Germline variants are present from conception, but they vary …
Clonal haematopoiesis, ageing and kidney disease
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 …
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
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 …
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
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 …
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 …
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 …
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 …
(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 …
the emergence of cellular patchworks within tissues, increases with age and has been …
[HTML][HTML] 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 …
hematopoietic stem cell that results in a clonal expansion. These driver mutations can be …
Epigenetic and proteomic signatures associate with clonal hematopoiesis expansion rate
Clonal hematopoiesis of indeterminate potential (CHIP), whereby somatic mutations in
hematopoietic stem cells confer a selective advantage and drive clonal expansion, not only …
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 …
has transformed our understanding of aging and its links to cancer. In proliferative human …