Population-scale analysis of human microsatellites reveals novel sources of exonic variation.

@article{McIver2013PopulationscaleAO,
  title={Population-scale analysis of human microsatellites reveals novel sources of exonic variation.},
  author={Lauren McIver and J. Frank McCormick and A. Pizarro Mart{\'i}n and John W. Fondon and Harold R. Garner},
  journal={Gene},
  year={2013},
  volume={516 2},
  pages={328-34}
}
Using our microsatellite specific genotyping method, we analyzed tandem repeats, which are known to be highly variable with some recognized as biomarkers causative of disease, in over 500 individuals who were exon sequenced in a 1000 Genomes Project pilot study. We were able to genotype over 97% of the microsatellite loci in the targeted regions. A total of 25,115 variations were observed, including repeat length and single nucleotide polymorphisms, corresponding to an average of 45.6… CONTINUE READING
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