In Nature Neuroscience this week, a team of US and Canadian researchers reports the creation of a multi-omic neuroscience resource using quantitative trait locus (xQTL) analyses on a set of RNA sequence, DNA methylation, and histone acetylation data from the brains of 411 older adults. The investigators identified SNPs significantly associated with gene expression, DNA methylation, and histone modification levels — including many SNPs that influence multiple molecular features. They also used the resource, called xQLT Service, to reanalyze published genome-wide association studies, uncovering 18 new schizophrenia and two new bipolar susceptibility variants.
And in Nature Biomedical Engineering, scientists from Rice University, Thermo Fisher Scientific, and Yale University describe a new multiplexed method for the enrichment and detection of rare DNA variants. The temperature-robust, PCR-based method — dubbed blocker displacement amplification — selectively amplifies all sequence variants, including single-nucleotide variants, within a roughly 20-nucleotide window by 1,000-fold over wild-type sequences, allowing for easy detection and quantitation of hundreds of potential variants originally at or less than 0.1 percent in allele frequency. The method is compatible with inexpensive thermocycler instrumentation and employs a rationally designed competitive hybridization reaction to achieve comparable enrichment performance across annealing temperatures ranging from 56 degrees to 64 degrees Celsius, the researchers state.