Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
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 genetically diverse populations, we analyzed whole-genome sequencing data from 67,390 individuals from the National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine program. We observed higher sensitivity with whole-genome sequencing data, compared with array-based data, in uncovering mCAs at low mutant cell fractions and found that individuals of European ancestry have the highest rates of autosomal mCAs and the lowest rates of chromosome X mCAs, compared with individuals of African or Hispanic ancestry. Although further studies in diverse populations will be needed to replicate our findings, we report three loci associated with loss of chromosome X, associations between autosomal mCAs and rare variants in DCPS, ADM17, PPP1R16B and TET2 and ancestry-specific variants in ATM and MPL with mCAs in cis.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10632132 | PMC |
| http://dx.doi.org/10.1038/s41588-023-01553-1 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Chromosome-scale genome assembly of Sauvagesia rhodoleuca (Ochnaceae) provides insights into its genome evolution and demographic history.
DNA Res
September 2025
Key Laboratory of National Forestry and Grassland Administration on Plant Conservation and Utilization in Southern China, South China Botanical Garden, Chinese Academy of Sciences, Guangzhou 510650, China.
Sauvagesia rhodoleuca is an endangered species endemic to southern China. Due to human activities, only six fragmented populations remain in Guangdong and Guangxi. Despite considerable conservation efforts, its demographic history and evolution remain poorly understood, particularly from a genomic perspective.
View Article and Find Full Text PDFCharacterization of blood group variants in an Omani population by comparison of whole genome sequencing and serology.
Transfusion
September 2025
Department of Human Genetics, The University of Utah School of Medicine, Salt Lake City, Utah, USA.
Background: Although blood group variation was first described over a century ago, our understanding of the genetic variation affecting antigenic expression on the red blood cell surface in many populations is lacking. This deficit limits the ability to accurately type patients, especially as serological testing is not available for all described blood groups, and targeted genotyping panels may lack rare or population-specific variants.
Study Design And Methods: Here, we perform serological assays across 24 antigens and whole genome sequencing on 100 Omanis, a population underrepresented in genomic databases.
The rise of Extended spectrum β-lactamase (ESBL) producing ceftriaxone resistant Salmonella Typhi from western Rajasthan, India.
Infect Disord Drug Targets
September 2025
Department of Microbiology, AIIMS, Jodhpur, India.
Introduction: Typhoid fever, caused by Salmonella Typhi and Paratyphi, remains a sig-nificant public health concern, particularly in developing countries. The emergence of antimicrobial resistance, including resistance to first-line drugs, fluoroquinolones, and the development of re-sistance to ceftriaxone, poses a significant threat to effective treatment.
Methods: This study investigated extended-spectrum β-lactamase (ESBL)-producing Salmonella Typhi isolates from blood samples of patients with suspected typhoid fever at a tertiary care hospital in Western Rajasthan, India, between April 2022 and May 2024.
Predominance of L. monocytogenes Lineage I Clones in Wastewater, Ruminants, and Natural Environments.
Environ Microbiol
September 2025
Listeria: Biology and Infection Research Group (LisBio), Valencia, Spain.
Listeria monocytogenes is a saprophytic bacterium and a foodborne pathogen of humans and animals. Little is known about its distribution and genetic diversity across different environments within the same geographical region. We conducted a large-scale longitudinal study in southeastern Spain monitoring Listeria spp.
View Article and Find Full Text PDFDHX37 variants in patients with 46,XY disorders or differences of sex development.
Hum Genome Var
September 2025
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Here, using whole-exome sequencing of a cohort of 17 Japanese patients with 46,XY disorders or differences of sex development, we identified two pathogenic DEAH-box helicase 37 (DHX37) variants in three patients. We also identified a patient with a likely pathogenic variant in SOX9 and a rare likely benign variant in DHX37. This Data Report highlights the genetic and phenotypic diversity of DXH37 variants.
View Article and Find Full Text PDF