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 …

Pangenome references address biases of reference genomes by storing a representative
set of diverse haplotypes and their alignment, usually as a graph. Alternate alleles …

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

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 …

The complete sequence of a human genome provided our first comprehensive view of the
organization of satellite DNA associated with heterochromatin. We review how our …

Despite only 8% of cattle being found in Europe, European breeds dominate current genetic
resources. This adversely impacts cattle research in other important global cattle breeds …

Reference-free genome phasing is vital for understanding allele inheritance and the impact
of single-molecule DNA variation on phenotypes. To achieve thorough phasing across …

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

We introduce Giraffe, a pangenome short read mapper that can efficiently map to a
collection of haplotypes threaded through a sequence graph. Giraffe, part of the variation …