The Diploid Genome Sequence of an Individual Human

Presented here is a genome sequence of an individual human. It was produced from approximately 32 million random DNA fragments, sequenced by Sanger dideoxy technology and assembled into 4,528 scaffolds, comprising 2,810 million bases (Mb) of contiguous sequence with approximately 7.5-fold coverage for any given region. We developed a modified version of the Celera assembler to facilitate the identification and comparison of alternate alleles within this individual diploid genome. Comparison of this genome and the National Center for Biotechnology Information human reference assembly revealed more than 4.1 million DNA variants, encompassing 12.3 Mb. These variants (of which 1,288,319 were novel) included…

• CI
  Canadian Institute for Advanced Research
• GC
  Genome Canada
• OG
  Ontario Genomics
• OG
  Ontario Genomics Institute
• SK
  Sick Kids Foundation
• HF
  Hospital for Sick Children
• CI
  Canadian Institutes of Health Research