![]() ![]() ![]() Past studies have made such decisions in ad hoc ways, with some filtering according to allele frequency, ethnicity, or both. While methods for including variants in the reference are growing in number, there is little or no work on how to choose which variants to include. The question is emerging: how can we use population genetics information to improve accuracy of genomic analyses? This has fueled interest in techniques that depart from a linear string as point of reference for all individuals and toward pan-genome representations more inclusive of genetic variation. High-throughput technologies have brought an explosion of population genetics information, including from projects like HapMap, the 1000 Genomes Project, and UK10K. Assembled genomes are typically stored and understood as strings, simple sequences of base pairs. ![]()
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