Functional genomics meets human genetics

Functional genomics is a key emerging topic in human genetics. The aim of functional genomics is to identify the structure, properties, and function of genes and their regulatory elements, or that of any other genomic sequence with an intracellular functional role. The ultimate goal is to elucidate the function of all components of the (human) genome. Initially, functional genomics centered around eff orts to (i) map genetic elements of diff erent types, and (ii) functional “gene-by-gene” investigations. However, due to recent technological advances, in particular the introduction of array-based technologies and next-generation-sequencing (NGS), functional genomics has been extended towards the generation and integration of systematic data from genomic, epigenomic, and tran-scriptomic projects, with complementary expertise from the fields of computational data science and synthetic biology.

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