Methods for Human Genomics
The human genome project was a landmark technical achievement that revolutionized the field of human genetics. However, even the most complete modern reference sequences (such as hg38) still lack features and content from some populations. As many of the most ancient and divergent human lineages are found in southern Africa, we are developing alternative whole genome sequences for use in studies of Khoe-San indigenous peoples. We are also evaluating to what extent such resources can minimize technical effects such as reference bias, which may distort conclusions centered on a single reference genome.