Characterizing the major structural variant alleles of the human genome. Homo sapiens

The reference genome plays a critical role in science and medicine, and despite decades of development, it still contains errors, rare alleles, and missing sequence. Many studies have attempted to close gaps, but few have characterized primary assembly accuracy. With long-read data, we sequenced 15 samples, assembled reads aligning to the genome, and identified structural variants in all samples. We then merged the structural variants into a non-redundant set and analyzed their frequency among the 15 discovery samples. These contigs represent a set of alternative alleles and reference corrections.