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Structural polymorphism and diversity of human segmental duplications.
Nat Genet
January 2025
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Segmental duplications (SDs) contribute significantly to human disease, evolution and diversity but have been difficult to resolve at the sequence level. We present a population genetics survey of SDs by analyzing 170 human genome assemblies (from 85 samples representing 38 Africans and 47 non-Africans) in which the majority of autosomal SDs are fully resolved using long-read sequence assembly. Excluding the acrocentric short arms and sex chromosomes, we identify 173.
View Article and Find Full Text PDFMarital and living status and biological ageing trajectories: a longitudinal cohort study with a 20-year follow-up.
Biogerontology
January 2025
Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Box 210, 171 77, Stockholm, Sweden.
Biomarkers of ageing (BA) can predict health risks beyond chronological age, but little is known about how marital/living status affects longitudinal changes in BA. We examined the association between marital/living status and BA over time using the-Swedish-Adoption/Twin-Study-of-Aging (SATSA) cohort. Four BAs were analyzed: telomere length (TL) (638 individuals; 1603 measurements), DNAmAge (535 individuals; 1392 measurements), cognition (823 individuals; 3218 measurements), and frailty index (FI) (1828 individuals; 9502 measurements).
View Article and Find Full Text PDFThe single-stranded DNA-binding factor SUB1/PC4 alleviates replication stress at telomeres and is a vulnerability of ALT cancer cells.
Proc Natl Acad Sci U S A
January 2025
Département de Biologie, Université de Sherbrooke, Sherbrooke, QC J1K 2R1, Canada.
To achieve replicative immortality, cancer cells must activate telomere maintenance mechanisms. In 10 to 15% of cancers, this is enabled by recombination-based alternative lengthening of telomeres pathways (ALT). ALT cells display several hallmarks including heterogeneous telomere length, extrachromosomal telomeric repeats, and ALT-associated PML bodies.
View Article and Find Full Text PDFNanopore Data-Driven Chromosome-Level Assembly of Flax Genome.
Plants (Basel)
December 2024
Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, 119991 Moscow, Russia.
Flax is an important crop grown for seed and fiber. Flax chromosome number is 2n = 30, and its genome size is about 450-480 Mb. To date, the genomes of several flax varieties have been sequenced and assembled.
View Article and Find Full Text PDFA Machine Learning Classification Model for Gastrointestinal Health in Cancer Survivors: Roles of Telomere Length and Social Determinants of Health.
Int J Environ Res Public Health
December 2024
Center for Healthy Aging, Self-Management and Complex Care, College of Nursing, The Ohio State University, Columbus, OH 43210, USA.
Background: Gastrointestinal (GI) distress is prevalent and often persistent among cancer survivors, impacting their quality of life, nutrition, daily function, and mortality. GI health screening is crucial for preventing and managing this distress. However, accurate classification methods for GI health remain unexplored.
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