There is growing appreciation that the human genome contains significant numbers of
structural rearrangements, such as insertions, deletions, inversions, and large tandem …

The phenotypes that are associated with the common forms of polycystic kidney disease
(PKD)—autosomal dominant (ADPKD) and autosomal recessive (ARPKD)—are highly …

Background: Genomic disorders are often caused by non-allelic homologous recombination
between segmental duplications. Chromosome 16 is especially rich in a chromosome …

The black morel (Morchella importuna Kuo, O'Donnell and Volk) was once an uncultivable
wild mushroom, until the development of exogenous nutrient bag (ENB), making its …

We have identified a recurrent de novo pericentromeric deletion in 16p11. 2–p12. 2 in four
individuals with developmental disabilities by microarray-based comparative genomic …

Objective To describe our current understanding of hereditary α-tryptasemia (HαT), how HαT
fits into the evolutionary context of tryptases and contemporary framework of mast cell …

Autosomal dominant polycystic kidney disease (ADPKD) is a common nephropathy caused
by mutations in either PKD1 or PKD2. Mutations in PKD1 account for∼ 85% of cases and …

Copy number variants (CNVs) at chromosome 16p13. 11 have been associated with a
range of neurodevelopmental disorders including autism, ADHD, intellectual disability and …

Polymorphic inversions are a type of structural variants that are difficult to analyze owing to
their balanced nature and the location of breakpoints within complex repeated regions. So …

Developing accurate, scalable algorithms to improve data quality is an important
computational challenge associated with recent advances in high-throughput sequencing …