You are here

Am J Hum Genet DOI:10.1016/j.ajhg.2013.07.002

Mapping the human reference genome's missing sequence by three-way admixture in Latino genomes.

Publication TypeJournal Article
Year of Publication2013
AuthorsGenovese, G, Handsaker, RE, Li, H, Kenny, EE, McCarroll, SA
JournalAm J Hum Genet
Date Published2013 Sep 05
KeywordsBase Sequence, Chromosome Mapping, Chromosomes, Human, Gene Frequency, Gene Pool, Genealogy and Heraldry, Genome, Human, Genotype, Hispanic Americans, Humans, Polymorphism, Single Nucleotide, Reference Standards, Reproducibility of Results, Software

A principal obstacle to completing maps and analyses of the human genome involves the genome's "inaccessible" regions: sequences (often euchromatic and containing genes) that are isolated from the rest of the euchromatic genome by heterochromatin and other repeat-rich sequence. We describe a way to localize these sequences by using ancestry linkage disequilibrium in populations that derive ancestry from at least three continents, as is the case for Latinos. We used this approach to map the genomic locations of almost 20 megabases of sequence unlocalized or missing from the current human genome reference (NCBI Genome GRCh37)-a substantial fraction of the human genome's remaining unmapped sequence. We show that the genomic locations of most sequences that originated from fosmids and larger clones can be admixture mapped in this way, by using publicly available whole-genome sequence data. Genome assembly efforts and future builds of the human genome reference will be strongly informed by this localization of genes and other euchromatic sequences that are embedded within highly repetitive pericentromeric regions.


Alternate JournalAm. J. Hum. Genet.
PubMed ID23932108
PubMed Central IDPMC3971454
Grant ListR01 HG006855 / HG / NHGRI NIH HHS / United States
R01 HG006855-01 / HG / NHGRI NIH HHS / United States