Genetic variant calling from DNA sequencing has enabled understanding of germline
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …

Due to the development of sequencing technology and the great reduction in sequencing
costs, an increasing number of plant genomes have been assembled, and numerous …

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

Pangenome graphs can represent all variation between multiple reference genomes, but
current approaches to build them exclude complex sequences or are based upon a single …

The current human reference genome, GRCh38, represents over 20 years of effort to
generate a high-quality assembly, which has benefitted society,. However, it still has many …

Since its introduction in 2011 the variant call format (VCF) has been widely adopted for
processing DNA and RNA variants in practically all population studies—as well as in …

The short arms of the human acrocentric chromosomes 13, 14, 15, 21 and 22 (SAACs) share
large homologous regions, including ribosomal DNA repeats and extended segmental …

The adoption of agriculture triggered a rapid shift towards starch-rich diets in human
populations. Amylase genes facilitate starch digestion, and increased amylase copy number …

Motivation Pangenome variation graphs model the mutual alignment of collections of DNA
sequences. A set of pairwise alignments implies a variation graph, but there are no scalable …

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