Table 4.

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

No. of genes21
AF threshold in sequenced samples<5%
AF threshold in the EVS<0.1% (dominant gene); <0.1% (recessive gene)
AF threshold in the 1000G<1% in any of 26 populations
Functional prediction thresholdPredicted damaging by two of three of PolyPhen2, SIFT, and MutationTaster
Transcript specificityMost negatively selected
Conservation score (GERP)>4
  • GERP, genome evolutionary rate profiling.