Functional Genomics

Functional Genomics sits within genetics and genomics and addresses linking sequence to function — perturbation, expression, and chromatin assays at genome scale. The page below sketches the conceptual scope of the area, the methodological tools it relies on, and the recent literature anchoring its current frontier.

The area organises around a small number of recurring axes: scope (what biological scales the work spans), method (the dominant experimental or computational tools), data regime (what kinds of measurements are now routine vs. still frontier), and open questions (what the field cannot yet do reliably). The sources below cover different combinations of these axes.

Frontier results

A primary recent reference for this area is An integrated encyclopedia of DNA elements in the human genome (Encode, 2012), which contributes to the methodological or empirical conversation that defines the current frontier of functional genomics. It illustrates the kind of question the field is actively pursuing — the specific technical claim, the dataset or system on which it was validated, and the way subsequent work builds on it.

A primary recent reference for this area is Defining a cancer dependency map (Tsherniak, 2017), which contributes to the methodological or empirical conversation that defines the current frontier of functional genomics. It illustrates the kind of question the field is actively pursuing — the specific technical claim, the dataset or system on which it was validated, and the way subsequent work builds on it.

A primary recent reference for this area is Perturb-Seq: dissecting molecular circuits with scalable single-cell RNA profiling of pooled genetic screens (Dixit et al., 2016), which contributes to the methodological or empirical conversation that defines the current frontier of functional genomics. It illustrates the kind of question the field is actively pursuing — the specific technical claim, the dataset or system on which it was validated, and the way subsequent work builds on it.

Open questions

Open questions in functional genomics cluster around scaling current methods to larger systems, integrating measurements across modalities, and producing predictive rather than descriptive models. The references above mark the work that the next iteration of this page should engage with in more specific detail.