Genotyping and haplotyping articles within Nature

Featured

  • Article
    | Open Access

    A new DNA analysis method termed long fragment read technology is described, and the approach is used to determine parental haplotypes and to sequence human genomes cost-effectively and accurately from only 10 to 20 cells.

    • Brock A. Peters
    • , Bahram G. Kermani
    •  & Radoje Drmanac
  • Article |

    Here, the analysis of 'HapMap 3' is reported — a public data set of genomic variants in human populations. The resource integrates common and rare single nucleotide polymorphisms (SNPs) and copy number polymorphisms (CNPs) from 11 global populations, providing insights into population-specific differences among variants. It also demonstrates the feasibility of imputing newly discovered rare SNPs and CNPs.

    • David M. Altshuler
    • , Richard A. Gibbs
    •  & Jean E. McEwen