Article
Mapping Bias Overestimates Reference Allele Frequencies at the HLA Genes in the 1000 Genomes Project Phase I Data.
G3 (Bethesda, Md.) - 17 Mar 2015
Brandt Débora Y C, Aguiar Vitor R C, Bitarello Bárbara D, Nunes Kelly, Goudet Jérôme, Meyer Diogo
Abstract excerpt
Next-generation sequencing (NGS) technologies have become the standard for data generation in studies of population genomics, as the 1000 Genomes Project (1000G). However, these techniques are known to be problematic when applied to highly polymorphic genomic regions, such as the human leukocyte antigen (HLA) genes. Because accurate genotype calls and allele frequency estimations are crucial to population...
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