The importance of phase information for human genomics

Nat Rev Genet. 2011 Mar;12(3):215-23. doi: 10.1038/nrg2950. Epub 2011 Feb 8.


Contemporary sequencing studies often ignore the diploid nature of the human genome because they do not routinely separate or 'phase' maternally and paternally derived sequence information. However, many findings - both from recent studies and in the more established medical genetics literature - indicate that relationships between human DNA sequence and phenotype, including disease, can be more fully understood with phase information. Thus, the existing technological impediments to obtaining phase information must be overcome if human genomics is to reach its full potential.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Diploidy*
  • Disease / genetics*
  • Gene Deletion
  • Gene Duplication
  • Gene Expression
  • Genetic Association Studies
  • Genome, Human*
  • Genomics*
  • Humans
  • Sequence Analysis, DNA