Association of essential tremor with novel risk loci: A genome-wide association study and meta-analysis
This study revealed five genome-wide significant loci associated with essential tremor (ET), one of the most common movement disorders. The researchers’ findings suggest that common genetic variation partly explains ET’s heritability.
Allele-specific expression reveals interactions between genetic variation and environment
Combining whole-blood RNA-seq with extensive environmental annotations collected from 922 human individuals, we identified 35 GxE interactions, compared with only four using standard GxE interaction testing. EAGLE provides new opportunities for researchers to identify GxE interactions using functional genomic data.
Impact of the X Chromosome and sex on regulatory variation
The research team analyzed blood transcriptomes of 922 individuals and they were able to conduct the first large-scale genome wide analysis of sex/genetic variation patterns. They generated chromatin and were able to develop genome-wide insight into how genetic variation shape human gene regulation and disease.