Table 3.

Characteristics of the default filter devised to classify variants as causal for NS

No. of genes21
AF threshold in sequenced samples<5%
AF threshold in the EVS<0.5% (dominant gene); <1% (recessive gene)
AF threshold in the 1000GNot used
Functional prediction thresholdPredicted damaging by two of three of PolyPhen2, SIFT, and MutationTaster (A or D)
Transcript specificityLongest transcript
Conservation score (GERP)Not used
  • GERP, genome evolutionary rate profiling.