A Research Blog

Last time, we looked at Zika and microcephaly. As we continue our series on the top research stories of 2016, we asked Prof Stuart Cook, Director of the Cardiovascular and Metabolic Disorders (CVMD) Programme at Duke-NUS, for what he thought was the biggest research story of 2016 to impact CVMD research. His pick: the Exome Aggregation Consortium (ExAC). In today’s post, we find out more about ExAC and why it is such a big deal.

What ExACtly is the exome?

Our genome stores all the information necessary for life, it is like the body’s instruction manual on how to function. Each cell refers to this manual to determine which genes to express into proteins, thereby dictating a cell’s behaviour within a tissue, organ and system. The portions of the genome that directly code for these proteins make up the exome.

Variation within the exome exists due to the accumulation of mutations in the genome. Some of these variants have no effect on the proteins they code, while others render the protein useless and contributes to the development of disease. The question now is which variants contribute to disease, and which are noise?

What ExACtly is ExAC?


Search form