Exomeとは

To demonstrate the utility of their approach, researchers focused on the exomes of eight people (four Yoruba, two East Asians, two European-Americans), whose DNA had previously been characterized by the International HapMap Project. The HapMap Project was an effort that produced a comprehensive catalog of common human genetic variation across the human genome. In addition, the study included four unrelated people with Freeman-Sheldon syndrome, a rare inherited disorder caused by mutations in the MYH3 gene, to see if exome sequencing had the power to detect the MYH3 mutations known to exist in their DNA.

オリジナル論文→Targeted capture and massively parallel sequencing of 12 human exomes. Ng S B. et al. Nature. advance online publication 16 August 2009
NIHがサポートするExomeプロジェクトの論文がNatureに。HapMapプロジェクトで配列決定された12人のゲノムからエクソンだけを抜き取り、ヒトゲノム標準配列と比較してSNPなどCommon variantを見極めたあとで、Freeman-Sheldon症候群の患者４人に特有の変異を見つけられたよって研究結果らしいです。オリジナル論文は未読ですが。ふーん、確かにエクソンだけ配列を調べればいいとなれば、検査費用と時間は節減できます。面白い。