Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …

FGFRs are receptor tyrosine kinases with a role in several biological processes, such as the
regulation of development and tissue repair. However, alterations in FGFRs 1–4, such as …

Nearly all prostate cancer deaths are from metastatic castration-resistant prostate cancer
(mCRPC), but there have been few whole-genome sequencing (WGS) studies of this …

Large-scale population analyses coupled with advances in technology have demonstrated
that the human genome is more diverse than originally thought. To date, this diversity has …

Cancer is a disease largely caused by genomic aberrations. Utilizing many rapidly emerging
sequencing technologies, researchers have studied cancer genomes to understand the …

As is true of virtually every realm of the biological sciences, our understanding of speciation
is increasingly informed by the genomic revolution of the past decade. Investigators can ask …

Cancer progression is driven by both somatic copy number aberrations (CNAs) and
chromatin remodeling, yet little is known about the interplay between these two classes of …

Purpose: Genomic rearrangements can generate potent oncogenic drivers or disrupt tumor
suppressor genes. This study examines the landscape of fusions and rearrangements …

K562 is widely used in biomedical research. It is one of three tier-one cell lines of ENCODE
and also most commonly used for large-scale CRISPR/Cas9 screens. Although its functional …

The need to accurately identify the complete structural variation profile of genomes is
becoming increasingly evident. In contrast to reference-based methods like sequencing or …