In Nature this week, a team of Spanish researchers publishes data suggesting that one type of blood cancer, chronic lymphocytic leukemia, makes alterations to the non-coding regions of patients' genomes that influence disease outcomes. The scientists studied samples from more than 500 patients and discovered around 60 genetic mutations that occurred in multiple samples. They also found a number of recurrent mutations in non-coding genomic regions, including one that was associated with more aggressive disease.
Also in Nature, a group led by Harvard Medical School reports the results of a study indicating that some Amazonian Native Americans descended from a founding population related to indigenous Australasians. By analyzing genome-wide data from 30 Native American populations in Central and South America, as well as 197 non-American populations globally, the investigators found that native populations from Amazonia derive a small part of their ancestry from a population most closely related to indigenous Australians, New Guineans, and Andaman Islanders than to present-day Eurasians or Native Americans. They also note that other present-day native populations from North and Central America appear to lack this genetic profile. GenomeWeb has more on this and a related Science study, here.
And in Nature Genetics, researchers from the University of Cambridge describe the use of whole-genome sequencing to uncover new details about Barrett's esophagus and a cancer, called esophageal adenocarcinoma that it often develops into. By analyzing 23 paired samples from both conditions, as well as one in-depth Barrett’s esophagus case study sampled over time and space, they discovered certain genetic aberrations that may contribute to the progression from one disease to the other. GenomeWeb also covers this and related work here.