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This Week in Genome Research: May 23, 2018

Researchers from Italy and the US map inversion variants detected in human and non-human primate genomes. Based on alignments between the latest version of the human, chimpanzee, gorilla, orangutan, and macaque genome assemblies, the researchers tracked down more than 150 apparent inversions spanning more than 103,000 and 91 million bases. They took a closer look at 126 suspected inversions at 109 loci using additional insights from prior studies, sequence data, targeted sequencing, fluorescence in situ hybridization analyses, and other experiments, highlighting 67 sites in the genome that have been subject to inversions in one or more primates. That set included loci affecting dozens and human genes, as well as seven disease-related sites prone to recurrent rearrangements in the human genome

A Cold Spring Harbor Laboratory-led team present results from a transcriptome profiling analysis of maize and sorghum. Using single-molecule, long read RNA sequencing, the researchers tallied up protein-coding and non-coding transcript data for 11 matched tissues from the maize B73 and sorghum BTx623 lines, identifying new transcript isoforms and characteristic splicing and expression profiles in the two agricultural plant species. "[O]ur results reveal considerable splicing and expression diversity between sorghum and maize," the authors note, "well beyond what was reported in previous studies, likely reflecting the differences in architecture between these two species." 

Finally, Spanish, Italian, and American researchers explore historical interactions between populations that colonized South America via Pacific and Atlantic routes, gleaned from genetic data for populations living in the Andes or in sites south of the Amazon River. The team brought together new and available mitochondrial genome sequences and/or autosomal SNP data for ancient and present-day individuals from more than two-dozen Native American groups in Argentina, Peru, Bolivia, and other parts of the Andes. From the genetic clusters and gene flow patterns identified in these samples, the authors saw little evidence for interactions between populations entering South America by alternative routes. Moreover, they note, "genetic and archaeological data point to the Andes as the main demographic source for South America in prehistoric and historical times."