Estimation of allele frequency and association mapping using next-generation sequencing data

Research output: Contribution to journalJournal articleResearchpeer-review


Su Yeon Kim, Kirk E Lohmueller, Anders Albrechtsen, Yingrui Li, Thorfinn Sand Korneliussen, Geng Tian, Niels Grarup, Tao Jiang, Gitte Andersen, Daniel Witte, Torben Jorgensen, Torben Hansen, Oluf Pedersen, Jun Wang, Rasmus Nielsen

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
Pages (from-to)231
Number of pages16
Publication statusPublished - 2011

    Research areas

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

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