The missense variant is vanishingly rare outside Iceland and excludes direct replication of this particular association in other cohorts. However, a similar effect was detected for asthma and ...

"Missense" mutations — changes in a DNA sequence that swap one amino acid for another — in nearly 5,000 human proteins are known to cause genetic diseases, such as Huntington's disease and ...

These are known as missense mutations, and scientists have estimated that missense mutations are responsible for about one-third of genetic diseases. But there are millions of other missense mutations ...

Applications of rapidly advancing sequencing technology exacerbate the need to interpret individual sequence variants. Sequencing of phenotyped clinical subjects will soon become a method of ...

A comprehensive analysis of over 500,000 human protein variants reveals that 60% of disease-causing missense mutations reduce protein stability In a recent study published in Nature, researchers ...

A new mega-database of half a million mutations may flag new ways of treating genetic disease, scientists say.