In Nature Genetics this week, researchers from the University of Oxford and GlaxoSmithKline present a population reference graph based on multiple reference genome sequences and catalogs of genetic variation that can improve the accuracy of genome inference. Reconstructing the genomes of new samples as paths through the graph, meanwhile, allows for recombination between different haplotypes and additional variants. The team shows that the method not only ups the accuracy of genome inference in the major histocompatibility complex region, it also identifies regions where the current set of reference sequences is "substantially incomplete."
Meanwhile, in Nature Methods, a group of British investigators report on G&T-seq, a method for separating and sequencing genomic DNA and full-length mRNA from single cells, enabling the simultaneous sequencing of a single cell's genome and transcriptome. The researchers applied their method to more than 220 single cells from mice and humans, discovering cellular properties "that could not be inferred from DNA or RNA sequencing alone." GenomeWeb has more on this study here.