Mutations, the fuel of evolution, are first manifested as rare DNA changes within a population
of cells. Although next-generation sequencing (NGS) technologies have revolutionized the …

Accumulating evidence suggests that many classes of DNA repeats exhibit attributes that
distinguish them from other genetic variants, including the fact that they are more liable to …

In an effort to more fully understand the full spectrum of human genetic variation, we
generated deep single-molecule, real-time (SMRT) sequencing data from two haploid …

Bioresponsive polymers have been widely used in drug delivery because of their
degradability. For example, poly (disulfide) s with repeating disulfide bonds in the main …

Despite representing an important source of genetic variation, tandem repeats (TRs) remain
poorly studied due to technical difficulties. We hypothesized that TRs can operate as …

BACKGROUND Microsatellite instability (MSI) is an emerging actionable phenotype in
oncology that informs tumor response to immune checkpoint pathway immunotherapy …

The diversity and population genetics of copy number variation (CNV) in domesticated
animals are not well understood. In this study, we analysed 75 genomes of major taurine …

Microsatellites are multi-allelic and composed of short tandem repeats (STRs) with
individual motifs composed of mononucleotides, dinucleotides or higher including …

Background: Huntington's disease (HD) is an autosomal dominant neurodegenerative
disorder caused by the expansion of the HTT CAG repeat. Affected individuals inherit≥ 36 …

Cell lineage analysis aims to uncover the developmental history of an organism back to its
cell of origin. Recently, novel in vivo methods utilizing genome editing enabled important …