A population model for genotyping indels from next-generation sequence data

Nucleic Acids Res. 2013 Feb 1;41(3):e46. doi: 10.1093/nar/gks1143. Epub 2012 Dec 5.

Abstract

Insertion and deletion polymorphisms (indels) are an important source of genomic variation in plant and animal genomes, but accurate genotyping from low-coverage and exome next-generation sequence data remains challenging. We introduce an efficient population clustering algorithm for diploids and polyploids which was tested on a dataset of 2000 exomes. Compared with existing methods, we report a 4-fold reduction in overall indel genotype error rates with a 9-fold reduction in low coverage regions.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algorithms*
  • Exome
  • Genotyping Techniques*
  • High-Throughput Nucleotide Sequencing / methods*
  • INDEL Mutation*
  • Models, Genetic
  • Population / genetics