Condel for prioritization of variants involved in hereditary diseases and transFIC for cancer

We have worked during the last years on assessing the functional impact of non-synonymous variants (nsSNVs). As a result, we have published two new approaches Condel and transFIC. In this post I would like to clarify the differences between one and the other, and give our recommendations on when each of them should be used.

Read the rest of this entry »

How to evaluate the performance of computational methods to identify driver mutations?

We have recently published transFIC, a computational method to assess the functional impact of somatic cancer mutations (see this post). To evaluate the performance of transFIC we needed a dataset of driver and passanger mutations. However, we faced a common problem in this field: there is not such dataset that can be trusted and is not biased. Thus, it was a challenge to properly evaluate the performance of transFIC and compare it to other methods with similar aim.

Read the rest of this entry »