title: Using population admixture to help complete maps of the human genome.
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.
authors: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
authors: Giulio
authors: G
authors: Genovese
authors: Robert E
authors: RE
authors: Handsaker
authors: Heng
authors: H
authors: Li
authors: Nicolas
authors: N
authors: Altemose
authors: Amelia M
authors: AM
authors: Lindgren
authors: Kimberly
authors: K
authors: Chambert
authors: Bogdan
authors: B
authors: Pasaniuc
authors: Alkes L
authors: AL
authors: Price
authors: David
authors: D
authors: Reich
authors: Cynthia C
authors: CC
authors: Morton
authors: Martin R
authors: MR
authors: Pollak
authors: James G
authors: JG
authors: Wilson
authors: Steven A
authors: SA
authors: McCarroll
mesh_terms: D002874:Chromosome Mapping; D019295:Computational Biology; D022041:Euchromatin / Q000235:genetics*; D019143:Evolution, Molecular; D020440:Gene Duplication; D014644:Genetic Variation / Q000235:genetics*; D005828:Genetics, Population; D015894:Genome, Human; D006570:Heterochromatin / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence
chemical_list: D022041:Euchromatin; D006570:Heterochromatin