We further estimate gene-based noncoding DNMs by segment-based test in the intergenic region, and only CSMD1 reached statistically significant ( p = 2.79 × 10 −7 ) in SPARK and marginally significant ( p = 5.47 × 10 −4 ) in SSC ( Table S8 ).
present an analytical framework to evaluate rare and de novo noncoding mutations from the whole genome sequencing of 519 ASD families, unable to demonstrate a rare noncoding variant contribution to ASD risk, but found that the noncoding de novo indels category showed a greater number of nominally significant results than expected. 29 The authors 29 demonstrated that the contribution of de novo noncoding variation is probably modest compared to de novo coding variants.