Table 1.

Sequencing statistics for whole-exome analysis

Family members	Total reads	Mapped reads	Reads on target	Average coverage (×)	Target region at 20× plus coverage
Proband	86,633,632	83,531,396 (96.4%)	51,179,686 (61.3%)	103	95.1%
Mother	73,649,659	67,263,058 (91.3%)	42,678,410 (63.5%)	89	94.9%