This author interview is by Dr Hong Xue, of Hong Kong University of Science and Technology.  Dr Xue's full paper, Application of machine learning to development of copy number variation-based prediction of cancer risk, is available for download in Genomics Insights.

First please summarise for readers the content of your article.

Using machine learning, we have developed a procedure for predicting hereditary cancer risk based on the recurrent (or common) copy number variations occurring in individuals’ constitutional (or germ-line) genomes.

How did you come to be involved in your area of study?

Our research laboratory is a participating laboratory in the International Cancer Genome Consortium, for which I am coordinating the Hong Kong team of researchers from Hong Kong University of Science and Technology, Hong Kong University and the Chinese University of Hong Kong.

What was previously known about the topic of your article?

Some rare somatic forms of copy number variations (CNVs) are observed in cancer tissues. However, hitherto commonly occurring CNVs in individuals’ constitutional genomes, as measure with non-cancerous peripheral leukocytes, are not known to be associated with cancer risk.

How has your work in this area advanced understanding of the topic?

By showing that cancer risk can be assessed based on recurrent CNVs, our work has opened up the use of such CNVs for cancer prediction, and hence predictive medicine for cancers.

What do you regard as being the most important aspect of the results reported in the article?

There are two most important aspects of our work. First, it has increased the usefulness of cancer prediction, thereby enhancing the potential utility of cancer prediction. Secondly, it has identified a number of recurrent CNVs with an ethnic population that are associated with high cancer risk or low cancer risk. Each of the CNV features will open up a line of enquiry to deepen our insight into the underlying factors of cancer development.

You can learn more about Dr Xue and her work here;
http://life-sci.ust.hk/faculty/Prof.H.Xue/index.html

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