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

Short-read sequencing is the workhorse of cancer genomics yet is thought to miss many
structural variants (SVs), particularly large chromosomal alterations. To characterize missing …

The mechanisms behind the evolution of complex genomic amplifications in cancer have
remained largely unclear. Using whole-genome sequencing data of the pediatric tumor …

Homologous recombination (HR) deficiency is associated with DNA rearrangements and
cytogenetic aberrations. Paradoxically, the types of DNA rearrangements that are …

Long-range sequencing grants insight into additional genetic information beyond what can
be accessed by both short reads and modern long-read technology. Several new …

Structural variants (SVs) are a major driver of genetic diversity and disease in the human
genome and their discovery is imperative to advances in precision medicine. Existing SV …

Recent pan-genome studies have revealed an abundance of DNA sequences in human
genomes that are not present in the reference genome. A lion's share of these non-reference …

Abstract Background Juvenile Pilocytic Astrocytomas (JPAs) are one of the most common
pediatric brain tumors, and they are driven by aberrant activation of the mitogen-activated …

Profiling genetic variants—including single nucleotide variants, small insertions and
deletions, copy number variations, and structural variations (SVs)—from both healthy …

Linked-read sequencing promises a one-method approach for genome-wide insights
including single nucleotide variants (SNVs), structural variants, and haplotyping. We …