William Stedman

TL;DR: A large, diverse set of sequencing data for seven human genomes is described; five are current or candidate NIST Reference Materials and two Personal Genome Project trios, one of Ashkenazim Jewish ancestry and one of Chinese ancestry are described.

TL;DR: It is shown that genome mapping with long, fluorescently labeled DNA molecules imaged on nanochannel arrays can be used for whole-genome structural variation detection without sequencing, and finds that individuals have many more structural variants than those published, including some with the potential of disrupting gene function or regulation.

TL;DR: The detailed protocol is described here the detailed protocol that was used to generate a whole genome BioNano map for Aegilops tauschii, the D genome progenitor of hexaploid wheat (Triticum aestivum) to validate sequence assembly based on the next-generation sequencing, order sequence scaffolds, and ultimately build pseudomolecules for the genome.

TL;DR: In this paper, the authors present methods and systems for assessing the presence and extent of damage on a polynucleotide by incorporating a label at the site of the damage and imaging the label to determine the presence of and the extent of such damage.