Fig. 3.

Coverage of known mutations for MyoPanel2 design.

A. Number of known mutation positions with no or low sequence coverage per each MyoPanel2 sample. B. Number of mutations with < 6 × coverage (red line) in correlation with target sequence coverage (bars) per sample. As little as 12 out 11,467 published mutations are missed by our optimized targeted exome approach. Of these, six are not covered by capture probe design and therefore cannot be detected even if the sequencing conditions are optimal. Lower quality DNA samples from batch1 had many more missed known mutation positions.