limited33. In addition, the evolution of sequencing, analysis and filtering strategies means that our results are not a simple superset of previous analysis. Although the number of characterized variants has more than doubled relative to phase 1, ∼2.3 million previously described variants are not included in the current analysis; most missing variants were rare or marked as low quality: 1.6 million had frequency <0.5% and may be missing from our current read set, while the remainder were removed by our filtering processes.
