Extended Data Figure 5.

is based on the “100 bp slop or 90% reciprocal overlap” method, requiring ≥2 PacBio reads. (b) Validation rates by frequency class for variant carriers and non-carriers with increasing PacBio supporting read thresholds are shown using the same overlap method as in Supplementary Table 3. Variant counts per frequency class are as follows: singleton (N=133), rare (N=734), low frequency (N=1,361), and common (N=7,677).