Here we ask the question “How much information do epigenomic datasets provide about
human genomic function?” We consider nine epigenomic features across 115 cell types and …

We describe a new computational method for estimating the probability that a point mutation
at each position in a genome will influence fitness. These'fitness consequence'(fitCons) …

The missing diversity in human epigenomic studies | Nature Genetics Skip to main content
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For decades, it has been hypothesized that gene regulation has had a central role in human
evolution, yet much remains unknown about the genome-wide impact of regulatory …

A central challenge in human genomics is to understand the cellular, evolutionary, and
clinical significance of genetic variants. Here, we introduce a unified population-genetic and …

The fraction of the human genome that is functional is a question of both evolutionary and
practical importance. Studies of sequence divergence have suggested that the functional …

Epigenetics is the study of biochemical modifications carrying information independent of
DNA sequence, which are heritable through cell division. In 1940, Waddington coined the …

Detailed knowledge of how diversity in the sequence of the human genome affects
phenotypic diversity depends on a comprehensive and reliable characterization of both …

The role of positive selection in human evolution remains controversial. On the one hand,
scans for positive selection have identified hundreds of candidate loci, and the genome …

Here, we demonstrate how comparative sequence analysis facilitates genome-wide base-
pair-level interpretation of individual genetic variation and address two questions of …