Using patterns of variation from tens of thousands of individuals with whole-genome sequence data ... (gnomAD), a large international human genome reference resource that they have been expanding ...

In summary, our data represent the first comprehensive survey of patterns of sequence variation at the human CYP3A locus. Our study reveals large differences in allele frequency and haplotype ...

One mechanism in this process is the alteration of chromatin structure due to sequence variation that influences gene regulation. We composed a high-confidence collection of human single ...