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Rare Variation Facilitates Inferences of Fine-Scale Population Structure in Humans
- Source :
- Molecular Biology and Evolution
- Publication Year :
- 2014
- Publisher :
- Oxford University Press, 2014.
-
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.
- Subjects :
- 0106 biological sciences
Population structure
Information Theory
Biology
Disease cluster
010603 evolutionary biology
01 natural sciences
Polymorphism, Single Nucleotide
Coalescent theory
03 medical and health sciences
Genetics
Ethnicity
Humans
Exome
Molecular Biology
Ecology, Evolution, Behavior and Systematics
Exome sequencing
Discoveries
030304 developmental biology
0303 health sciences
Principal Component Analysis
Variation (linguistics)
recent demography
Genetics, Population
Evolutionary biology
Genetic structure
Scale (map)
exome sequencing
Subjects
Details
- Language :
- English
- ISSN :
- 15371719 and 07374038
- Volume :
- 32
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Molecular Biology and Evolution
- Accession number :
- edsair.doi.dedup.....2af3ac0d368dd11a40e71a74f0ccfd6b