High-throughput sequencing reveals extensive variation in human-specific L1 content in individual human genomes.

@article{Ewing2010HighthroughputSR,
  title={High-throughput sequencing reveals extensive variation in human-specific L1 content in individual human genomes.},
  author={Adam D. Ewing and Haig H. Kazazian},
  journal={Genome research},
  year={2010},
  volume={20 9},
  pages={1262-70}
}
Using high-throughput sequencing, we devised a technique to determine the insertion sites of virtually all members of the human-specific L1 retrotransposon family in any human genome. Using diagnostic nucleotides, we were able to locate the approximately 800 L1Hs copies corresponding specifically to the pre-Ta, Ta-0, and Ta-1 L1Hs subfamilies, with over 90% of sequenced reads corresponding to human-specific elements. We find that any two individual genomes differ at an average of 285 sites with… CONTINUE READING
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