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This Week in Nature: Jul 2, 2015

In Nature this week, researchers from the University of Edinburgh and elsewhere present the results of an analysis of the genomes of more than 350,000 individuals, uncovering the existence of a small but measureable association between genome-wide homozygosity and certain key, complex traits. Specifically, the investigators found that increased levels of homozygosity correlate negatively with height, lung function, cognitive ability, and educational attainment. The effects were found across large populations spanning more than four continents, suggesting that factors like height and cognitive ability may have been positively selected for over the course of human history.

Meanwhile, in Nature Biotechnology, a team led by Stanford University researchers reports on chemical modifications that can improve the efficiency of CRISPR-Cas9 genome editing in human primary cells. The technique relies on guide RNAs to direct site-specific DNA cleavage. By making alterations to a synthesized guide RNA, the researchers were able to enhance gene editing in in human primary T cells, as well CD34+ hematopoietic stem and progenitor cells.

And in Nature Methods, a multi-institute research team published the first comprehensive analysis of a diploid human genome that combines single-molecule sequencing with single-molecule genome maps. The hybrid assembly improves on the contiguity observed from traditional shotgun sequencing approaches, the study's authors say. Additionally, by combining Illumina short-read data with long reads, they were able to phase both single-nucleotide variants and structural variants, generating haplotypes with over 99 percent consistency with previous trio-based studies. GenomeWeb has more on this study, here.