In this week's Nature Genetics, a team of US and South African researchers present an analysis of the bat genome, offering insights into the genetic determinants that shape their wings and make them the only mammals capable of powered flight. They generated a genome for the bat species Miniopterus natalensis and performed RNA-seq and ChIP-seq analyses on its developing forelimb and hindlimb autopods at different embryonic stages. They discovered more than 7,000 genes and numerous long non-coding RNAs that were differentially expressed between the two sets of limbs, in addition to differential regulation of ribosomal proteins and known limb patterning signaling pathways. Overall, the work highlights multiple genetic components that contribute to bat wing formation and provides a foundation for the study of other such morphological innovations.
And in Nature Biotechnology, a Stanford University-led group published details about a new two-step approach for improving the detection of circulating tumor DNA (ctDNA). While high-throughput sequencing of ctDNA holds promise for personalized cancer therapy, low quantities of cell-free DNA (cfDNA) in blood and sequencing artifacts hamper its analytical sensitivity. To address these problems, the investigators developed a method that combines in silico elimination of highly stereotypical background artifacts with a molecular barcoding strategy for the efficient recovery of cfDNA molecules. When applied to non-small cell lung cancer patients, the approach enabled biopsy-free profiling of EGFR kinase domain mutations with 92 percent sensitivity and more than 99.99 percent specificity at the variant level, and with 90 percent sensitivity and 96 percent specificity at the patient level. GenomeWeb has more on this study here.