Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

@inproceedings{Handsaker2011DiscoveryAG,
  title={Discovery and genotyping of genome structural polymorphism by sequencing on a population scale},
  author={Robert E. Handsaker and Joshua M. Korn and James Nemesh and Steven A. McCarroll},
  booktitle={Nature Genetics},
  year={2011}
}
Accurate and complete analysis of genome variation in large populations will be required to understand the role of genome variation in complex disease. We present an analytical framework for characterizing genome deletion polymorphism in populations using sequence data that are distributed across hundreds or thousands of genomes. Our approach uses population-level concepts to reinterpret the technical features of sequence data that often reflect structural variation. In the 1000 Genomes Project… CONTINUE READING
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