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 …
for a host of human diseases. Here, to gain a better understanding of mCA rates in …
A pan-tissue survey of mosaic chromosomal alterations in 948 individuals
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 …
single-nucleotide variants have been well characterized in the human body, the patterns …
[PDF][PDF] Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals
R Truty, S Rojahn, K Ouyang, C Kautzer… - The American Journal of …, 2023 - cell.com
DNA variants that arise after conception can show mosaicism, varying in presence and
extent among tissues. Mosaic variants have been reported in Mendelian diseases, but …
extent among tissues. Mosaic variants have been reported in Mendelian diseases, but …
Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer
Age is the dominant risk factor for infectious diseases, but the mechanisms linking the two
are incompletely understood1, 2. Age-related mosaic chromosomal alterations (mCAs) …
are incompletely understood1, 2. Age-related mosaic chromosomal alterations (mCAs) …
Incident disease associations with mosaic chromosomal alterations on autosomes, X and Y chromosomes: insights from a phenome-wide association study in the UK …
Background Mosaic chromosomal alterations (mCAs) are large chromosomal gains, losses
and copy-neutral losses of heterozygosity (LOH) in peripheral leukocytes. While many …
and copy-neutral losses of heterozygosity (LOH) in peripheral leukocytes. While many …
Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection
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 …
infectious disease risk are incompletely understood. Age-related mosaic chromosomal …
Clonal hematopoiesis due to mosaic chromosomal alterations: Impact on disease risk and mortality
Mosaic chromosomal alterations (mCAs) are the clonal expansion of large somatically
acquired structural chromosomal changes present on the autosomes and sex …
acquired structural chromosomal changes present on the autosomes and sex …
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease
Background The contribution of somatic mosaicism, or genetic mutations arising after oocyte
fertilization, to congenital heart disease (CHD) is not well understood. Further, the …
fertilization, to congenital heart disease (CHD) is not well understood. Further, the …
Cell-type-specific consequences of mosaic structural variants in hematopoietic stem and progenitor cells
K Grimes, H Jeong, A Amoah, N Xu, J Niemann… - Nature Genetics, 2024 - nature.com
The functional impact and cellular context of mosaic structural variants (mSVs) in normal
tissues is understudied. Utilizing Strand-seq, we sequenced 1,133 single-cell genomes from …
tissues is understudied. Utilizing Strand-seq, we sequenced 1,133 single-cell genomes from …
Serum biomarkers are altered in UK Biobank participants with mosaic chromosomal alterations
Age-related clonal expansion of cells harbouring mosaic chromosomal alterations (mCAs) is
one manifestation of clonal haematopoiesis. Identifying factors that influence the generation …
one manifestation of clonal haematopoiesis. Identifying factors that influence the generation …