Editor's Summary
10 May 2007
Genetic variation
Studies of human genetic variation tend to concentrate on single-nucleotide differences. But at the next level up there are structural differences — insertions, deletions and inversions for instance — a few kilobases to hundreds of kilobases in size that add another dimension to genetic variation. A new project under the auspices of the National Human Genome Research Institute aims to accumulate a dataset of structural variation within the genome to give a comprehensive picture of DNA sequence-level differences found in phenotypically normal individuals. From there it's a short step to studies of disease at the level of the individual genome. In this issue members of the project working group describe in detail its aims and methodology.
Feature: Completing the map of human genetic variation
A plan to identify and integrate normal structural variation into the human genome sequence.
The Human Genome Structural Variation Working Group
doi:10.1038/447161a
