Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

Long-read sequencing technologies have now reached a level of accuracy and yield that
allows their application to variant detection at a scale of tens to thousands of samples …

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 …

INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …

Abstract Approximately 5–10% of the human genome remains inaccessible due to the
presence of repetitive sequences such as segmental duplications and tandem repeat arrays …

Abstract Ensembl Genomes (http://www. ensemblgenomes. org) is an integrating resource
for genome-scale data from non-vertebrate species, complementing the resources for …

Large-scale population genomic surveys are essential to explore the phenotypic diversity of
natural populations. Here we report the whole-genome sequencing and phenotyping of …

Modern computing systems are overwhelmingly designed to move data to computation. This
design choice goes directly against at least three key trends in computing that cause …

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