Fig. 2 |. Genetic discovery is paralleled by advances in functional genomics technologies.

Top, the growth in the number of genetic loci associated by GWAS with human traits and diseases (bars) and of variant-to-function studies (area under line, not to scale). Bottom, foundational technological and computational advances over the last decade that enabled (1) development of systematic, genome-wide catalogues of functional elements across multiple cell types and tissues (blue); (2) mapping of QTLs in the context of gene expression, metabolites, proteins and regulatory elements (red); (3) engineering of genes, genetic elements and genetic variation at increasing scale (orange); and (4) systematic tissue-specific surveys of regulatory elements and transcription (grey). scRNA-seq, single-cell RNA-sequencing analysis; ChIA-PET, chromatin interaction analysis by paired-end tag sequencing; ChIP–seq, chromatin immunoprecipitation followed by sequencing; FAIRE-seq, formaldehyde-assisted isolation of regulatory elements with sequencing; DHS-seq, DNase I-hypersensitive sites sequencing; ATAC-seq, assay for transposase-accessible chromatin using sequencing; MPRA, massively parallel reporter assay; STARR-seq, self-transcribing active regulatory region sequencing; CNN: convolutional neural networks. For further details and primary literature on many of these assays, see ref.¹⁷³.