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Nat Genet DOI:10.1038/ng.2565

Using population admixture to help complete maps of the human genome.

Publication TypeJournal Article
Year of Publication2013
AuthorsGenovese, G, Handsaker, RE, Li, H, Altemose, N, Lindgren, AM, Chambert, K, Pasaniuc, B, Price, AL, Reich, D, Morton, CC, Pollak, MR, Wilson, JG, McCarroll, SA
JournalNat Genet
Volume45
Issue4
Pages406-14, 414e1-2
Date Published2013 Apr
ISSN1546-1718
KeywordsChromosome Mapping, Computational Biology, Euchromatin, Evolution, Molecular, Gene Duplication, Genetic Variation, Genetics, Population, Genome, Human, Heterochromatin, Humans, In Situ Hybridization, Fluorescence
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 using the patterns of genome sequence variation created by population admixture. We mapped the locations of 70 scaffolds spanning 4 million base pairs of the human genome's unplaced euchromatic sequence, including more than a dozen protein-coding genes, and identified 8 new large interchromosomal 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 at the RNA level 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.

URLhttp://dx.doi.org/10.1038/ng.2565
DOI10.1038/ng.2565
Pubmed

http://www.ncbi.nlm.nih.gov/pubmed/23435088?dopt=Abstract

Alternate JournalNat. Genet.
PubMed ID23435088
PubMed Central IDPMC3683849
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