Long-read sequencing technologies have now reached a level of accuracy and yield that
allows their application to variant detection at a scale of tens to thousands of samples …

Since the first reported crop pangenome in 2014, advances in high‐throughput and cost‐
effective DNA sequencing technologies facilitated multiple such studies including the …

The fundamental challenge of multi-sample structural variant (SV) analysis such as merging
and benchmarking is identifying when two SVs are the same. Common approaches for …

Advancements in sequencing technologies and assembly methods enable the regular
production of high-quality genome assemblies characterizing complex regions. However …

Many genomic analyses start by aligning sequencing reads to a linear reference genome.
However, linear reference genomes are imperfect, lacking millions of bases of unknown …

Computational pangenomics is an emerging research field that is changing the way
computer scientists are facing challenges in biological sequence analysis. In past decades …

Nascent pairs of ecologically differentiated species offer an opportunity to get a better
glimpse at the genetic architecture of speciation. Of particular interest is our recent ability to …

Large genomic insertions and deletions are a potent source of functional variation, but are
challenging to resolve with short-read sequencing, limiting knowledge of the role of such …

Pangenomics is emerging as a powerful computational paradigm in bioinformatics. This field
uses population-level genome reference structures, typically consisting of a sequence …

Understanding the impact of DNA variation on human traits is a fundamental question in
human genetics. Variable number tandem repeats (VNTRs) make up∼ 3% of the human …