Table 2. Filtering steps applied to variations called from WES of two families, each with three ASD siblings.
Filtering step | Number of remaining variations | |
---|---|---|
Family #1 | Family #2 | |
Called | 185,015 | 178,706 |
Covered by 10 or more reads | 85,024 | 82,822 |
Shared by affected siblings | 32,888 | 33,713 |
Putatively functional | 3,374 | 3,508 |
Nonsense | 13 | 12 |
Frameshift | 40 | 44 |
Missense | 3,321 | 3,452 |
GERP > 5 | 448 | 417 |
Novel | 4 | 2 |
WES, whole-exome sequencing; ASD, autism spectrum disorder; GERP, Genomic Evolutionary Rate Profiling.