RESEARCH FIELD

Functional Genomics

Functional genomics investigates the functions of genes and regulatory elements encoded in the genome, moving beyond sequence to understand how genetic information is read out in living cells and how perturbations in gene function cause disease. The field encompasses genome-wide CRISPR-Cas9 loss-of-function and activation screens, RNA sequencing for transcriptome analysis, chromatin accessibility profiling via ATAC-seq, ChIP-seq and CUT-and-RUN for mapping histone modifications and transcription factor binding, and single-cell multiomics approaches that simultaneously measure genome, transcriptome, and epigenome in individual cells. Functional annotation of the non-coding genome is a major priority, driven by the finding that most disease-associated genetic variants lie in non-coding regions. High-throughput massively parallel reporter assays enable systematic testing of regulatory element activity. The field is central to drug target identification and validation, attracting substantial funding from NIH, the Wellcome Trust, HHMI, and pharmaceutical companies engaged in genomic medicine.