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 …

The orange subfamily (Aurantioideae) contains several Citrus species cultivated worldwide,
such as sweet orange and lemon. The origin of Citrus species has long been debated and …

Setaria italica (foxtail millet), a founder crop of East Asian agriculture, is a model plant for C4
photosynthesis and developing approaches to adaptive breeding across multiple climates …

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 …

Typical genotyping workflows map reads to a reference genome before identifying genetic
variants. Generating such alignments introduces reference biases and comes with …

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

Pan-genomes from large natural populations can capture genetic diversity and reveal
genomic complexity. Using de novo long-read assembly, we generated a graph-based …