The researchers found that dark regions impact more than 700 protein-coding genes and also identified a novel mutation in a known Alzheimer's disease gene.
The new grant will be used to conduct whole-exome sequencing on 1,000 children participating in an autism spectrum disorder study for the purposes of biomarker development.
A small but significant proportion of autism spectrum disorder cases — particularly those occurring in females — appeared to involve biallelic loss-of function or missense mutations.
Using exome data from Alzheimer's disease cases and controls with or without the APOE4 risk allele, investigators identified potential risk-stratifying variants.
In PNAS this week: links between lung adenocarcinoma and lncRNA, algorithm to impute and cluster Hi-C interaction profiles from single cells, and more.
