Differential methylation between the two alleles of a gene has been observed in imprinted
regions, where the methylation of one allele occurs on a parent-of-origin basis, the inactive X-…

Familial recurrent hydatidiform mole (RHM) is a maternal-effect autosomal recessive
disorder usually associated with mutations of the NLRP7 gene. It is characterized by HM with …

Certain human traits such as neurodevelopmental disorders (NDs) and congenital
anomalies (CAs) are believed to be primarily genetic in origin. However, even after whole-genome …

There is growing recognition that epivariations, most often recognized as promoter hypermethylation
events that lead to gene silencing, are associated with a number of human diseases…

Thousands of regions in gametes have opposing methylation profiles that are largely resolved
during the post-fertilization epigenetic reprogramming. However some specific sequences …

Genomic imprinting is the epigenetic process that results in monoallelic expression of
genes depending on parental origin. These genes are known to be critical for placental …

Variable number tandem repeats (VNTRs) are composed of large tandemly repeated motifs,
many of which are highly polymorphic in copy number. However, because of their large size …

Genomic imprinting is the parent‐of‐origin‐specific allelic transcriptional silencing observed
in mammals, which is governed by DNA methylation established in the gametes and …

Short tandem repeats (STRs) contribute significantly to genetic diversity in humans, including
disease-causing variation. Although the effect of STR variation on gene expression has …

Although DNA methylation is the best characterized epigenetic mark, the mechanism by
which it is targeted to specific regions in the genome remains unclear. Recent studies have …