Advancing evolutionary medicine with complete primate genomes and advanced biotechnologies

K Ma, X Yang, Y Mao - Trends in Genetics, 2024 - cell.com
Evolutionary medicine, which integrates evolutionary biology and medicine, significantly
enhances our understanding of human traits and disease susceptibility. However, previous …

LINE1 elements at distal junctions of rDNA repeats regulate nucleolar organization in human embryonic stem cells

L Ataei, J Zhang, S Monis, K Giemza… - Genes & …, 2024 - genesdev.cshlp.org
The nucleolus is a major subnuclear compartment where ribosomal DNA (rDNA) is
transcribed and ribosomes are assembled. In addition, recent studies have shown that the …

Genome-scale evolution in local populations of wild chimpanzees

T Hayakawa, T Kishida, Y Go, E Inoue, E Kawaguchi… - Scientific Reports, 2025 - nature.com
Abstract Analysis of genome-scale evolution has been difficult in large, endangered animals
because opportunities to collect high-quality genetic samples are limited. There is a need for …

Highly accurate assembly polishing with DeepPolisher

M Mastoras, M Asri, L Brambrink, P Hebbar… - …, 2024 - pmc.ncbi.nlm.nih.gov
Accurate genome assemblies are essential for biological research, but even the highest
quality assemblies retain errors caused by the technologies used to construct them. Base …

[HTML][HTML] Microsatellites explorer: A database of short tandem repeats across genomes

K Provatas, N Chantzi, M Patsakis, A Nayak… - Computational and …, 2024 - Elsevier
Short tandem repeats (STRs) are widespread, repetitive elements, with a number of
biological functions and are among the most rapidly mutating regions in the genome. Their …

Non-canonical DNA in human and other ape telomere-to-telomere genomes

L Smeds, K Kamali, I Kejnovská, E Kejnovský… - bioRxiv, 2024 - biorxiv.org
Non-canonical (non-B) DNA structures--bent DNA, slipped-strand structures, palindromes
and hairpins, triplex DNA, G-quadruplexes, etc.--which form at certain sequence motifs (A …

[HTML][HTML] SVbyEye: A visual tool to characterize structural variation among whole-genome assemblies

D Porubsky, X Guitart, DA Yoo, PC Dishuck… - …, 2024 - pmc.ncbi.nlm.nih.gov
Motivation We are now in the era of being able to routinely generate highly contiguous (near
telomere-to-telomere) genome assemblies of human and nonhuman species. Complex …

Incomplete lineage sorting of segmental duplications defines the human chromosome 2 fusion site early during African great ape speciation

X Jiang, L Zhang, Z Yang, X Yang, K Ma, DA Yoo, Y Lu… - bioRxiv, 2024 - biorxiv.org
All great apes differ karyotypically from humans due to the fusion of chromosomes 2a and
2b, resulting in human chromosome 2. Yet, the structure, function, and evolutionary history of …

[HTML][HTML] Gene expansions contributing to human brain evolution

DC Soto, JM Uribe-Salazar, G Kaya, R Valdarrago… - …, 2024 - pmc.ncbi.nlm.nih.gov
Genomic drivers of human-specific neurological traits remain largely undiscovered.
Duplicated genes expanded uniquely in the human lineage likely contributed to brain …

Centromeric transposable elements and epigenetic status drive karyotypic variation in the eastern hoolock gibbon

GA Hartley, M Okhovat, SJ Hoyt, E Fuller, N Pauloski… - …, 2024 - pmc.ncbi.nlm.nih.gov
Great apes have maintained a stable karyotype with few large-scale rearrangements; in
contrast, gibbons have undergone a high rate of chromosomal rearrangements coincident …