Chemical modifications to nucleic acids occur across the kingdoms of life and carry
important regulatory information. Reliable high-resolution mapping of these modifications is …

The completion of a telomere-to-telomere human reference genome, T2T-CHM13, has
resolved complex regions of the genome, including repetitive and homologous regions …

DNA comprises molecular information stored in genetic and epigenetic bases, both of which
are vital to our understanding of biology. Most DNA sequencing approaches address either …

Oxford Nanopore sequencing can detect DNA methylations from ionic current signal of
single molecules, offering a unique advantage over conventional methods. Additionally …

Long single-molecular sequencing technologies, such as PacBio circular consensus
sequencing (CCS) and nanopore sequencing, are advantageous in detecting DNA 5 …

Data from both bulk and single-cell whole-genome DNA methylation experiments are under-
utilized in many ways. This is attributable to inefficient mapping of methylation sequencing …

Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disorder caused by the
expansion of a CTG repeat in the 3′-UTR of DMPK, which is transcribed to a toxic gain-of …

The MicroArray and Sequencing Quality Control (MAQC) consortium is a FDA-led,
community-wide effort to evaluate the use of genomic technologies in clinical applications …

Background Ageing, disease and malignant transformation of the skin are associated with
changes in DNA methylation. So far, mostly invasive methodologies such as biopsies have …

Biological aging is a multifactorial process involving complex interactions of cellular and
biochemical processes that is reflected in omic profiles. Using common clinical laboratory …