Detection of large-scale variation in the human genome View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2004-09

AUTHORS

A John Iafrate, Lars Feuk, Miguel N Rivera, Marc L Listewnik, Patricia K Donahoe, Ying Qi, Stephen W Scherer, Charles Lee

ABSTRACT

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. More... »

PAGES

949-951

Journal

TITLE

Nature Genetics

ISSUE

9

VOLUME

36

Author Affiliations

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng1416

DOI

http://dx.doi.org/10.1038/ng1416

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1002767840

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/15286789


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