Pan-genomics can encompass most of the genetic diversity of a species or population and
has proved to be a powerful tool for studying genomic evolution and the origin and …

It has been over a decade since the first publication of a method dedicated entirely to
mapping long-reads. The distinctive characteristics of long reads resulted in methods …

Abstract Here the Human Pangenome Reference Consortium presents a first draft of the
human pangenome reference. The pangenome contains 47 phased, diploid assemblies …

INTRODUCTION Modern genomics depends on inexpensive short-read sequencing.
Sequenced reads up to a few hundred base pairs in length are computationally mapped to …

Motivation Pangenome graphs provide a complete representation of the mutual alignment of
collections of genomes. These models offer the opportunity to study the entire genomic …

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

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

Background Several models and algorithms have been proposed to build pangenomes from
multiple input assemblies, but their impact on variant representation, and consequently …

The Human Genome Project was an enormous accomplishment, providing a foundation for
countless explorations into the genetics and genomics of the human species. Yet for many …

Detecting allelic imbalance at the isoform level requires accounting for inferential
uncertainty, caused by multi-mapping of RNA-seq reads. Our proposed method, SEESAW …