A two-year-old girl with a severe developmental disorder is among the 5,500 people who now know the genetic cause of their condition, thanks to a major UK study.
Troves of sequencing data reveal genes tied to autism through different variant types, providing a more complete picture of the condition’s genetic roots and new clues to its heterogeneity.
Precision medicine research relies on genetic testing at scale, but has long suffered recruitment and retention headaches. The answer, says Patrick Short, CEO of Sano Genetics, is to start early and engage participants deeply.
Some rare cases of higher genetic mutation rates in children, known as hypermutation, could be linked to the father receiving certain chemotherapy treatments, new research has found.