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 …

Publication of the complete genome sequence of Arabidopsis thaliana, the first plant
reference genome, in December 2000 heralded the beginning of the plant genome era …

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

Missing heritability in genome-wide association studies defines a major problem in genetic
analyses of complex biological traits,. The solution to this problem is to identify all causal …

Effective utilization of wild relatives is key to overcoming challenges in genetic improvement
of cultivated tomato, which has a narrow genetic basis; however, current efforts to decipher …

Pearl millet is an important cereal crop worldwide and shows superior heat tolerance. Here,
we developed a graph-based pan-genome by assembling ten chromosomal genomes with …

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

Structural variations (SVs) and gene copy number variations (gCNVs) have contributed to
crop evolution, domestication, and improvement. Here, we assembled 31 high-quality …

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

Over the past decade, long-read, single-molecule DNA sequencing technologies have
emerged as powerful players in genomics. With the ability to generate reads tens to …