Estimating allele frequencies, ancestry proportions and genotype likelihoods in the presence of mapping bias.

Abstract excerpt

Population genomic analyses rely on an accurate and unbiased characterization of the genetic composition of the studied population. For short-read, high-throughput sequencing data, mapping sequencing reads to a linear reference genome can bias population genetic inference due to mismatches in reads carrying non-reference alleles. In this study, we investigate the impact of mapping bias on allele frequency...

Topics

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• Chromosome Mapping
• Gene Frequency
• Genetics, Population
• Genotype
• High-Throughput Nucleotide Sequencing