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

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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
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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