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

Department of Obstetrics and Gynecology, Institute of Clinical Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki 305-8575, Japan Tel. +81-298-53-3210; Fax +81-298-53-3072 e-mail ...

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 ...

The work helps explain why minimal changes in the human genome, also known as missense mutations, cause disease at the molecular level. The researchers discovered that protein instability is one of ...