Nat Genet. 2018 Mar;50(3):333-337. doi:10.1038/s41588-018-0062-7

di Iulio J, Bartha I, Wong EHM, Yu HC, Lavrenko V, Yang D, Jung I, Hicks MA, Shah N, Kirkness EF, Fabani MM, Biggs WH, Ren B, Venter JC, Telenti A.

The human noncoding genome defined by genetic diversity.

Study of the variation on the 4^th base of all possible heptamers in the human genome. Defined “context-dependent tolerance score (CDTS)” as “the absolute difference of the observed variation from the expected variation” in genomic windows, using 7,794 unrelated genomes. Identifies non-conserved, non-protein regions with human-specific sequence constraints.