Large scale genome sequencing has led to deep catalogues of natural and disease-related human genetic variation. Unfortunately, we do not understand the functional implications of the vast majority of detected variants, and therefore cannot use them for healthcare or research. The rapid advances of CRISPR/Cas-based technologies and DNA synthesis now make it possible to modulate genomes with relative ease. These tools can help us understand how genetic variation impacts phenotype and answer important long-standing questions in biology that also impact human health, laying the foundations for precision medicine for heritable diseases and cancer treatment.
The programme will cover approaches that modulate the genome and its context at scale, from single nucleotides and genes to hundreds of growth environments. We will discuss (i) assays that focus on individual nucleotides in coding and non-coding regions to understand the effects of single mutations; (ii) focused- and genome-wide scrambling methods that assess the influence of changing genome structure and content; (iii) genome-wide knock-out, knock-down, and upregulation experiments to measure the phenotype when a gene is perturbed; (iv) interaction screens to uncover context-specificity of effects; and (v) small molecule treatments to understand their impact. Computational approaches are integral to all these topics, and will be covered by invited speakers, as well as sought for in submitted abstracts.
The conference will bring together biomedical researchers working on high throughput screening, genome engineering, and/or variant effect interpretation. We welcome abstracts on all major themes of this meeting to oral or poster presentations.