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Using population admixture to help complete maps of the human genome

 
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3683849.pdf (2.101Mb)
Author
Genovese, GiulioHARVARD
Handsaker, Robert E.HARVARD
Li, HengHARVARD
Altemose, Nicolas
Lindgren, Amelia M.
Chambert, Kimberly
Pasaniuc, Bogdan
Price, Alkes L.HARVARD
Reich, DavidHARVARD
Morton, Cynthia C.HARVARD
Pollak, Martin R.HARVARD
Wilson, James G.
McCarroll, Steven A.HARVARD
Note: Order does not necessarily reflect citation order of authors.
Published Version
https://doi.org/10.1038/ng.2565
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Citation
Genovese, G., R. E. Handsaker, H. Li, N. Altemose, A. M. Lindgren, K. Chambert, B. Pasaniuc, et al. 2013. “Using population admixture to help complete maps of the human genome.” Nature genetics 45 (4): 406-414e2. doi:10.1038/ng.2565. http://dx.doi.org/10.1038/ng.2565.
Abstract
Tens of millions of base pairs of euchromatic human genome sequence, including many protein-coding genes, have no known location in the human genome. We describe an approach for localizing the human genome's missing pieces by utilizing the patterns of genome sequence variation created by population admixture. We mapped the locations of 70 scaffolds spanning four million base pairs of the human genome's unplaced euchromatic sequence, including more than a dozen protein-coding genes, and identified eight large novel inter-chromosomal segmental duplications. We find that most of these sequences are hidden in the genome's heterochromatin, particularly its pericentromeric regions. Many cryptic, pericentromeric genes are expressed in RNA and have been maintained intact for millions of years while their expression patterns diverged from those of paralogous genes elsewhere in the genome. We describe how knowledge of the locations of these sequences can inform disease association and genome biology studies.
Other Sources
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3683849/pdf/
Terms of Use
This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page
http://nrs.harvard.edu/urn-3:HUL.InstRepos:11878852

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