Abstract:
:Understanding the genetic structure of human populations has important implications for the design and interpretation of disease mapping studies and reconstructing human evolutionary history. To date, inferences of human population structure have primarily been made with common variants. However, recent large-scale resequencing studies have shown an abundance of rare variation in humans, which may be particularly useful for making inferences of fine-scale population structure. To this end, we used an information theory framework and extensive coalescent simulations to rigorously quantify the informativeness of rare and common variation to detect signatures of fine-scale population structure. We show that rare variation affords unique insights into patterns of recent population structure. Furthermore, to empirically assess our theoretical findings, we analyzed high-coverage exome sequences in 6,515 European and African American individuals. As predicted, rare variants are more informative than common polymorphisms in revealing a distinct cluster of European-American individuals, and subsequent analyses demonstrate that these individuals are likely of Ashkenazi Jewish ancestry. Our results provide new insights into the population structure using rare variation, which will be an important factor to account for in rare variant association studies.
journal_name
Mol Biol Evoljournal_title
Molecular biology and evolutionauthors
O'Connor TD,Fu W,NHLBI GO Exome Sequencing Project.,ESP Population Genetics and Statistical Analysis Working Group, Emily Turner.,Mychaleckyj JC,Logsdon B,Auer P,Carlson CS,Leal SM,Smith JD,Rieder MJ,Bamshad MJ,Nickerson DA,Akedoi
10.1093/molbev/msu326subject
Has Abstractpub_date
2015-03-01 00:00:00pages
653-60issue
3eissn
0737-4038issn
1537-1719pii
msu326journal_volume
32pub_type
杂志文章abstract::The noncoding-DNA content of organelle and nuclear genomes can vary immensely. Both adaptive and nonadaptive explanations for this variation have been proposed. This study addresses a nonadaptive explanation called the mutational-hazard hypothesis and applies it to the mitochondrial, plastid, and nuclear genomes of th...
journal_title:Molecular biology and evolution
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journal_title:Molecular biology and evolution
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journal_title:Molecular biology and evolution
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pub_type: 杂志文章
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journal_title:Molecular biology and evolution
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pub_type: 信件,评审
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