The human reference genome is the most widely used resource in human genetics and is
due for a major update. Its current structure is a linear composite of merged haplotypes from …

The human reference genome is part of the foundation of modern human biology and a
monumental scientific achievement. However, because it excludes a great deal of common …

Low-cost whole-genome assembly has enabled the collection of haplotype-resolved
pangenomes for numerous organisms. In turn, this technological change is encouraging the …

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

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

Reference genomes guide our interpretation of DNA sequence data. However, conventional
linear references represent only one version of each locus, ignoring variation in the …

New genome assemblies have been arriving at a rapidly increasing pace, thanks to decreases
in sequencing costs and improvements in third-generation sequencing technologies 1 , 2 …

Genetic changes causing brain size expansion in human evolution have remained elusive.
Notch signaling is essential for radial glia stem cell proliferation and is a determinant of …

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

Structural variants (SVs) remain challenging to represent and study relative to point mutations
despite their demonstrated importance. We show that variation graphs, as implemented in …