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 ...

"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 ...

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 ...