Researchers have significantly expanded the catalogue of known human genetic variation. The resulting datasets, shared in two back-to-back publications in the journal Nature, constitute what may be ...
The team first looked at variation in data from genetic sequencing of 106,973 post-menopausal female participants in the UK Biobank study. Researchers focused on rare types of genetic changes which ...
Genome assemblies from 65 individuals, representing a variety of the world’s populations, are advancing the scientific exploration of complex genetic structural variation. Structural variations are ...
As genetic sequencing technology becomes more accessible and efficient, researchers have made significant strides in understanding the genetic underpinnings of various diseases. This knowledge has led ...
The Indigenous peoples of the Bolivian highlands are survivors. For thousands of years they have lived at altitudes of more than two miles, where oxygen is about 35 percent lower than at sea level.
Genetic testing for chronic myeloid leukemia (CML) can tell doctors if someone has leukemia, what type they may have, and whether treatment is working. The tests look for atypical changes in certain ...
Experts say the research could reveal more about the role of genetics in autism and lead to more personalized care. A new study has identified four biologically distinct subtypes of autism, each with ...
Scientists at Princeton and the Simons Foundation have identified four biologically distinct subtypes of autism, using data from over 5,000 children and a powerful new computational method. These ...
Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...