Transposable elements (TEs) comprise about half of the mammalian genome. TEs often
contain sequences capable of recruiting the host transcription machinery, which they use to …

There is great potential for genome sequencing to enhance patient care through improved
diagnostic sensitivity and more precise therapeutic targeting. To maximize this potential …

Detailed knowledge of how diversity in the sequence of the human genome affects
phenotypic diversity depends on a comprehensive and reliable characterization of both …

INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …

Tandem repeat (TR) variation is associated with gene expression changes and numerous
rare monogenic diseases. Although long-read sequencing provides accurate full-length …

Carbon quantum dots (CQDs) have emerged as promising materials for optoelectronic
applications on account of carbon's intrinsic merits of high stability, low cost, and …

Short tandem repeats (STRs) are enriched in eukaryotic cis-regulatory elements and alter
gene expression, yet how they regulate transcription remains unknown. We found that STRs …

Copy number variants (CNVs) have been strongly implicated in the genetic etiology of
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk …

In addition to the canonical right-handed double helix, other DNA structures, termed 'non-B
DNA', can form in the genomes across the tree of life. Non-B DNA regulates multiple cellular …

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 …