Advancing evolutionary medicine with complete primate genomes and advanced biotechnologies
Evolutionary medicine, which integrates evolutionary biology and medicine, significantly
enhances our understanding of human traits and disease susceptibility. However, previous …
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 …
transcribed and ribosomes are assembled. In addition, recent studies have shown that the …
Genome-scale evolution in local populations of wild chimpanzees
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 …
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 …
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
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 …
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 …
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 …
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
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 …
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 …
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 …
contrast, gibbons have undergone a high rate of chromosomal rearrangements coincident …