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

This review discusses the epidemiology, pathophysiology, genetic etiology, and
management of phenylketonuria (PKU). PKU, an autosomal recessive disease, is an inborn …

Structural variants (SVs) rearrange large segments of DNA and can have profound
consequences in evolution and human disease,. As national biobanks, disease-association …

The incomplete identification of structural variants (SVs) from whole-genome sequencing
data limits studies of human genetic diversity and disease association. Here, we apply a …

Genomic association studies of common or rare protein-coding variation have established
robust statistical approaches to account for multiple testing. Here we present a comparable …

Complex structural variants (CSVs) encompass multiple breakpoints and are often missed or
misinterpreted. We developed SVision, a deep-learning-based multi-object-recognition …

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 …

Summary X-linked Dystonia-Parkinsonism (XDP) is a Mendelian neurodegenerative
disease that is endemic to the Philippines and is associated with a founder haplotype. We …

Complex genome rearrangements can be generated by the catastrophic pulverization of
missegregated chromosomes trapped within micronuclei through a process known as …

Abstract Background Genome structural variations (SVs) have been associated with key
traits in a wide range of agronomically important species; however, SV profiles of peach and …