Alternative splicing is central to metazoan gene regulation, but the regulatory mechanisms
are incompletely understood. Here, we show that G-quadruplex (G4) motifs are enriched ~3-…

The gene regulatory code and grammar remain largely unknown, precluding our ability to link
phenotype to genotype in regulatory sequences. Here, using a massively parallel reporter …

Mutational signatures are patterns of mutations that arise during tumorigenesis. We present
an enhanced, practical framework for mutational signature analyses. Applying these …

The mechanisms that underpin how insertions or deletions (indels) become fixed in DNA
have primarily been ascribed to replication-related and/or double-strand break (DSB)-related …

The epithelial-mesenchymal transition (EMT) represents a biological program during which
epithelial cells lose their cell identity and acquire a mesenchymal phenotype. EMT is …

Multiple signatures of somatic mutations have been identified in cancer genomes. Exome
sequences of 1,001 human cancer cell lines and 577 xenografts revealed most common …

Somatic mutations show variation in density across cancer genomes. Previous studies have
shown that chromatin organization and replication time domains are correlated with, and …

Alternative DNA conformations, termed non-B DNA structures, can affect transcription, but
the underlying mechanisms and their functional impact have not been systematically …

The chemotherapeutic agent CX-5461, or pidnarulex, has been fast-tracked by the United
States Food and Drug Administration for early-stage clinical studies of BRCA1-, BRCA2- and …

Acheiropodia, congenital limb truncation, is associated with homozygous deletions in the
LMBR1 gene around ZRS, an enhancer regulating SHH during limb development. How these …