Article
Detection of large-scale variation in the human genome.
Nature genetics - 1 Sept 2004
Iafrate A John, Feuk Lars, Rivera Miguel N, Listewnik Marc L, Donahoe Patricia K, Qi Ying, Scherer Stephen W, Lee Charles
Abstract excerpt
We identified 255 loci across the human genome that contain genomic imbalances among unrelated individuals. Twenty-four variants are present in > 10% of the individuals that we examined. Half of these regions overlap with genes, and many coincide with segmental duplications or gaps in the human genome assembly. This previously unappreciated heterogeneity may underlie certain human phenotypic variation and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.