This perspective focuses on advances in genome technology over the last 25 years and
their impact on germline variant discovery within the field of human genetics. The field has …

Unlike copy number variants (CNVs), inversions remain an underexplored genetic variation
class. By integrating multiple genomic technologies, we discover 729 inversions in 41 …

Human chromosome inversions are types of balanced structural variations, making them
difficult to analyze. Thanks to PEM (paired‐end sequencing and mapping), there has been …

Inversions play an important role in disease and evolution but are difficult to characterize
because their breakpoints map to large repeats. We increased by sixfold the number (n …

Inversions are one type of structural variants linked to phenotypic differences and adaptation
in multiple organisms. However, there is still very little information about polymorphic …

For many years, inversions have been proposed to be a direct driving force in speciation
since they suppress recombination when heterozygous. Inversions are the most common …

Rhesus macaque is an Old World monkey that shared a common ancestor with human∼ 25
Myr ago and is an important animal model for human disease studies. A deep …

Despite the interest in characterizing genomic variation, the presence of large repeats at the
breakpoints hinders the analysis of many structural variants. This is especially problematic …

Gibbons are the most speciose family of living apes, characterized by a diverse
chromosome number and rapid rate of large-scale rearrangements. Here we performed …

Chromoanagenesis is a descriptive term that encompasses classes of catastrophic
mutagenic processes that generate localized and complex chromosome rearrangements in …