Human Cancer Genetics Programme

Human Genotyping-CEGEN Unit

Head of Unit:  Anna González-Neira
Overview

The most abundant types of genetic variation are single nucleotide variants (SNVs) and copy number variants (CNVs). Association studies involving the large-scale analysis of both SNVs and CNVs in thousands of patients can help to identify genes underlying complex diseases such as cancer, and drug responses. In this Unit we implement different high-throughput and cost-effective methods to measure from one to millions of SNVs and CNVs. In addition, epigenetic studies using whole-genome methylation are performed in the Unit. Complementarily, research focused on the identification of biomarkers for precision medicine is also undertaken.