• Publications
  • Influence
Extensive sequencing of seven human genomes to characterize benchmark reference materials
The Genome in a Bottle Consortium, hosted by the National Institute of Standards and Technology (NIST) is creating reference materials and data for human genome sequencing, as well as methods forExpand
  • 342
  • 44
  • PDF
A chromosome conformation capture ordered sequence of the barley genome.
Cereal grasses of the Triticeae tribe have been the major food source in temperate regions since the dawn of agriculture. Their large genomes are characterized by a high content of repetitiveExpand
  • 697
  • 40
  • PDF
Improved maize reference genome with single-molecule technologies
We report the assembly and annotation of a reference genome of maize, a genetic and agricultural model species, using single-molecule real-time sequencing and high-resolution optical mapping. Expand
  • 490
  • 38
  • PDF
Assembly and diploid architecture of an individual human genome via single-molecule technologies
We present the first comprehensive analysis of a diploid human genome that combines single-molecule sequencing with single-molecule genome maps. Our hybrid assembly markedly improves upon theExpand
  • 411
  • 29
  • PDF
Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly
We describe genome mapping on nanochannel arrays. In this approach, specific sequence motifs in single DNA molecules are fluorescently labeled, and the DNA molecules are uniformly stretched inExpand
  • 424
  • 24
Single-molecule sequencing and chromatin conformation capture enable de novo reference assembly of the domestic goat genome
The decrease in sequencing cost and increased sophistication of assembly algorithms for short-read platforms has resulted in a sharp increase in the number of species with genome assemblies. However,Expand
  • 328
  • 20
  • PDF
The axolotl genome and the evolution of key tissue formation regulators
Salamanders serve as important tetrapod models for developmental, regeneration and evolutionary studies. An extensive molecular toolkit makes the Mexican axolotl (Ambystoma mexicanum) a keyExpand
  • 144
  • 18
  • PDF
Multi-platform discovery of haplotype-resolved structural variation in human genomes
The incomplete identification of structural variants from whole-genome sequencing data limits studies of human genetic diversity and disease association. Here, we apply a suite of long- andExpand
  • 253
  • 16
  • PDF
Structural forms of the human amylase locus and their relationships to SNPs, haplotypes, and obesity
Hundreds of genes reside in structurally complex, poorly understood regions of the human genome. One such region contains the three amylase genes (AMY2B, AMY2A and AMY1) responsible for digestingExpand
  • 97
  • 16
  • PDF
De novo assembly and phasing of a Korean human genome
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 population groups.Expand
  • 253
  • 11
  • PDF