Figure 3.

Benchmarking the performance of GS in ASD probands and unaffected siblings

(A) The fraction of ASD probands and unaffected siblings identified to carry a P/LP variant by GS subset by inheritance category. The denominator used for all categories was 1,612 except for hemizygous variants where only males were considered (n = 1,440 male probands and 755 male siblings). p values were calculated by comparing the fraction of probands and siblings with a P/LP variant using Fisher's exact test.

(B) The total number of P/LP variants (n = 128) detected by each technology (GS, CMA, and ES) in n = 126 ASD probands.