Dr Inês Cebola

Despite the great advances genomics has brought to the understanding how certain genetic variants cause or predispose to disease, the DNA sequencing approaches routinely used to identify disease causing variants fail to yield definitive clinical diagnoses in many cases. This is in part due to the design of existing analytical pipelines, which are largely focused on coding segments of the genome.
This theme will create a collaborative platform for sharing of expertise and best practices in genomic data analysis and variant prioritisation with a goal of accelerating the discovery of disease-causing variants. The theme will also bring together experts in the many aspects of gene regulation and regulatory genomics, who will provide expertise on the specific genomic assays required to functionally interrogate noncoding genetic variants.