Structural variants (SVs) are a major source of human genetic diversity and have been
associated with different diseases and phenotypes. The detection of SVs is difficult, and a …

Background Pediatric disorders include a range of highly penetrant, genetically
heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a …

The major advantage of mRNA vaccines over more conventional approaches is their
potential for rapid development and large-scale deployment in pandemic situations. In the …

Retrotransposons mediate gene regulation in important developmental and pathological
processes. Here, we characterized the transient retrotransposon induction during …

Short-read genome sequencing (GS) holds the promise of becoming the primary diagnostic
approach for the assessment of autism spectrum disorder (ASD) and fetal structural …

Acquisition of new stem cell fates relies on the dissolution of the prior regulatory network
sustaining the existing cell fates. Currently, extensive insights have been revealed for the …

Germline mutation rates in humans have been estimated for a variety of mutation types,
including single-nucleotide and large structural variants. Here, we directly measure the …

Mobile element insertions (MEIs) are a major class of structural variants (SVs) and have
been linked to many human genetic disorders, including hemophilia, neurofibromatosis, and …

Transposable elements (TEs) encode regulatory elements that impact gene expression in
multiple species, yet a comprehensive analysis of zebrafish TEs in the context of gene …

Mobile element insertions (MEIs) are a known cause of genetic disease but have been
underexplored due to technical limitations of genetic testing methods. Various bioinformatic …