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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Estimation of allele frequency and association mapping using next-generation sequencing data

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  • Su Yeon Kim
  • Kirk E Lohmueller
  • Anders Albrechtsen
  • Yingrui Li
  • Thorfinn Korneliussen
  • Geng Tian
  • Niels Grarup
  • Tao Jiang
  • Gitte Andersen
  • Daniel Rinse Witte
  • Torben Jorgensen
  • Torben Hansen
  • Oluf Pedersen
  • Jun Wang
  • Rasmus Nielsen
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Estimation of allele frequency is of fundamental importance in population genetic analyses and in association mapping. In most studies using next-generation sequencing, a cost effective approach is to use medium or low-coverage data (e.g., <15X). However, SNP calling and allele frequency estimation in such studies is associated with substantial statistical uncertainty because of varying coverage and high error rates.
Original languageEnglish
JournalB M C Bioinformatics
Volume12
Pages (from-to)231
ISSN1471-2105
DOIs
Publication statusPublished - 2011

    Research areas

  • Gene Frequency, Genetics, Population, Genotype, High-Throughput Nucleotide Sequencing, Humans, Likelihood Functions, Polymorphism, Single Nucleotide, Sequence Analysis, DNA

ID: 34686186