Patterns of variation in cis-regulatory regions: examining evidence of purifying selection.

ABSTRACT:

Background

With only 2 % of the human genome consisting of protein coding genes, functionality across the rest of the genome has been the subject of much debate. This has gained further impetus in recent years due to a rapidly growing catalogue of genomic elements, based primarily on biochemical signatures (e.g. the ENCODE project). While the assessment of functionality is a complex task, the presence of selection acting on a genomic region is a strong indicator of importance. In this study, we apply population genetic methods to investigate signals overlaying several classes of regulatory elements.

Results

We disentangle signals of purifying selection acting directly on regulatory elements from the confounding factors of demography and purifying selection linked to e.g. nea

SUBMITTER: Naidoo T 

PROVIDER: S-EPMC5787233 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature