Advances in genome assembly and phasing provide an opportunity to investigate the diploid
architecture of the human genome and reveal the full range of structural variation across …

Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. …

High-quality and complete reference genome assemblies are fundamental for the application
of genomics to biology, disease, and biodiversity conservation. However, such assemblies …

We report the sequencing and assembly of a reference genome for the human GM12878
Utah/Ceph cell line using the MinION (Oxford Nanopore Technologies) nanopore sequencer. …

Recent long-read assemblies often exceed the quality and completeness of available
reference genomes, making validation challenging. Here we present Merqury, a novel tool for …

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 …

Long-read sequencing and novel long-range assays have revolutionized de novo genome
assembly by automating the reconstruction of reference-quality genomes. In particular, Hi-C …

Existing human genome assemblies have almost entirely excluded repetitive sequences
within and near centromeres, limiting our understanding of their organization, evolution, and …

After two decades of improvements, the current human reference genome (GRCh38) is the
most accurate and complete vertebrate genome ever produced. However, no single …

Background Major advances in selection progress for cattle have been made following the
introduction of genomic tools over the past 10–12 years. These tools depend upon the Bos …