Detection of large-scale variation in the human genome.
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 susceptibility to disease and argues for a more dynamic human genome structure.
Iafrate
A John
AJ
Department of Pathology, Brigham and Women's Hospital, 20 Shattuck St., Thorn 6-28, Boston, Massachusetts 02115, USA.
Feuk
Lars
L
Rivera
Miguel N
MN
Listewnik
Marc L
ML
Donahoe
Patricia K
PK
Qi
Ying
Y
Scherer
Stephen W
SW
Lee
Charles
C
D018628:Gene Dosage; D020131:Genes, Duplicate; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D010641:Phenotype