The ability of different genetic variants—changes to one or more building blocks of DNA—to cause disease, and to what extent, has historically been opaque. Geneticist and Crick group leader Greg ...
A study published in the Proceedings of the National Academy of Sciences by scientists from Israel and Ghana shows that an evolutionarily significant mutation in the human APOL1 gene arises not ...
Most mutations which cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a massive study of human protein variants published today in the ...
Researchers at the Institute for Bioengineering of Catalonia (IBEC) have produced a mutational map showing how mutations in amylin—a hormone that plays a key role in glucose regulation—affect its ...