Abstract
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 language | English |
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Journal | B M C Bioinformatics |
Volume | 12 |
Pages (from-to) | 231 |
Number of pages | 16 |
ISSN | 1471-2105 |
DOIs | |
Publication status | Published - 2011 |
Keywords
- Gene Frequency
- Genetics, Population
- Genotype
- High-Throughput Nucleotide Sequencing
- Humans
- Likelihood Functions
- Polymorphism, Single Nucleotide
- Sequence Analysis, DNA