project aiming to create a ‘comprehensive list of functional elements of the human genome’; determined that 80% of the genome is functional, contradicting the scientific consensus of the time (2010)

a sequence has function f, if that sequence causes function f

a sequence has function f, if that sequence exists because of function f

a sequence has function f if the removal of that sequence prevents function f

the removal of alleles that are deleterious, purging polymorphisms that arise through natural selection and potentially leading to stabilising selection

selection occurring when a sequence has changed because it has acquired a new function; possible to study between different human populations, but is difficult to identify in non-coding sequences

a database of whole genome and exome sequences, allowing the impact of variations to be studied; aimed to determine a base mutation rate that could be applied to the whole genome, finding that a few percent of the genome are more constrained than protein coding genes

selection theory stating that individual changes in the genome are not selected out of the population immediately, instead allowing another synonymous site to evolve at another site to compensate for the change

a measure of how much the order of a system changes when a transcription factor binds to a specific DNA sequence