Inter-individual variability in drug response, be it efficacy or safety, is common and likely to
become an increasing problem globally given the growing elderly population requiring …

Abstract Background: The Critical Assessment of Genome Interpretation (CAGI) aims to
advance the state-of-the-art for computational prediction of genetic variant impact …

Epigenomic regulation and lineage-specific gene expression act in concert to drive cellular
differentiation, but the temporal interplay between these processes is largely unknown …

The human genome contains millions of candidate cis-regulatory elements (cCREs) with cell-
type-specific activities that shape both health and many disease states. However, we lack a …

Abstract Background The Critical Assessment of Genome Interpretation (CAGI) aims to
advance the state-of-the-art for computational prediction of genetic variant impact …

Abstract Interpretation of genomic variation plays an essential role in the analysis of cancer
and monogenic disease, and increasingly also in complex trait disease, with applications …

The advent of perturbation-based massively parallel reporter assays (MPRAs) technique
has facilitated the delineation of the roles of non-coding regulatory elements in orchestrating …

Despite the recent explosion in genome-wide studies in chromatin and gene regulation, we
are still far from extracting a set of genetic rules that can predict the function of the regulatory …

Enhancers are cis-regulatory sequences located distally to target genes. These sequences
consolidate developmental and environmental cues to coordinate gene expression in a …

Background: The Critical Assessment of Genome Interpretation (CAGI) aims to advance the
state-of-the-art for computational prediction of genetic variant impact, particularly where …