In Science this week, a multi-institute research team uses long-read sequence assembly and full-length complementary DNA sequencing to generate new and improved orangutan and chimpanzee genome assemblies, without the need for human reference genome assemblies. By comparing the new ape genomes with previously assembled human genomes and a gorilla genome, the researchers
characterized lineage-specific and shared great ape genetic variation. For example, they identified around 17,000 fixed human-specific structural variants, identifying genic and putative regulatory changes that have emerged in humans since divergence from non-human apes. Notably, these variants are enriched near genes involved in brain morphology that are downregulated in humans versus chimpanzees.
The Daily Scan's sister site, GenomeWeb Daily News, has more on this study here.
Also in Science, a group led by investigators from Stanford University reports a novel noninvasive test that measures levels of nine cell-free RNA (cfRNA) transcripts in blood to predict a pregnant woman's due date. In a pilot study of 31 healthy pregnant woman, the researchers found that their test could predict gestational age with comparable accuracy to ultrasound — the current gold standard — but at a much lower cost. In a related study of 38 women at elevated risk of delivering preterm, measurements of seven cfRNA transcripts were used to accurately classify women who delivered preterm up to two months in advance of labor. While the tests are promising, additional validation is required before they can be widely used, the investigators note.
GenomeWeb Daily News has more on this study here.