The human genome contains multiple layers of information that extend beyond the genetic
sequence. In fact, identical genetics do not necessarily yield identical phenotypes as evident …

Abstract Background N6-methyladenosine (m6A), the most abundant internal modification
on eukaryotic mRNA, and N6, 2′-O-dimethyladenosine (m6Am), are epitranscriptomic …

In humans, the telomere consists of tandem 5′ TTAGGG3′ DNA repeats on both ends of
all 46 chromosomes. Telomere shortening has been linked to aging and age-related …

Chromosome instability (CIN) is frequently observed in many tumors. The breakage-fusion-
bridge (BFB) cycle has been proposed to be one of the main drivers of CIN during …

Telomerase activity is the principal telomere maintenance mechanism in human cancers,
however 15% of cancers utilise a recombination-based mechanism referred to as alternative …

Proteins and enzymes in the cell nucleus require physical access to their DNA target sites in
order to perform genomic tasks such as gene activation and transcription. Hence, chromatin …

Whole-genome mapping technologies have been developed as a complementary tool to
provide scaffolds for genome assembly and structural variation analysis (,). We recently …

Analysis of structural variations (SVs) is important to understand mutations underlying
genetic disorders and pathogenic conditions. However, characterizing SVs using short-read …

Telomeres play an essential role in protecting the ends of linear chromosomes and
maintaining the integrity of the human genome. One of the key hallmarks of cancers is their …

Background Human subtelomeric DNA regulates the length and stability of adjacent
telomeres that are critical for cellular function, and contains many gene/pseudogene …