At the AACR meeting, Elaine Mardis detailed efforts at Nationwide Children's Hospital to sequence patients' DNA and RNA to help inform therapeutic decisions.
The Telomere-to-Telomere consortium has already generated a gapless assembly of the human X chromosome and aims to complete all chromosomes over the next two years or so.
Early-access users of the Flongle said the small, inexpensive flow cells allow them to develop new methods quickly and to check the quality of clones and libraries.
By sequencing four ancient cave bears and comparing them to other bear species, researchers retraced historical admixture of cave bears and brown bears.
Diet- and height-related variants were selected for in a Flores Island pygmy population, according to a study, which also provided insights into the population's history.
California Kids Cancer Comparison leader David Haussler said the project's workflow was able to match 100 percent of tumor samples it tested to possible treatments.
St. Jude Children's Research Hospital scientists have treated infants with X-linked severe combined immunodeficiency using gene therapy in an early phase study.
In Nature this week: a genomic analysis of the snailfish Pseudoliparis swirei, ancient DNA analysis gives insight into the introduction of farming to England, and more.
