Differential gene expression is the fundamental mechanism underlying animal development
and cell differentiation. However, it is a challenge to identify comprehensively and accurately …

The number of reported germline mutations in human nuclear genes, either underlying or
associated with inherited disease, has now exceeded 100,000 in more than 3,700 different …

DNA methylation participates in establishing and maintaining chromatin structures and
regulates gene transcription during mammalian development and cellular differentiation …

In its first production phase, The ENCODE Project Consortium (ENCODE) has generated
thousands of genome-scale data sets, resulting in a genomic “parts list” that encompasses …

Background Regulated gene expression controls organismal development, and variation in
regulatory patterns has been implicated in complex traits. Thus accurate prediction of …

Gene expression is regulated through the activity of transcription factors (TF s) and
chromatin‐modifying proteins acting on specific DNA sequences, referred to as cis …

To date, the contribution of disrupted potentially cis-regulatory conserved non-coding
sequences (CNCs) to human disease is most likely underestimated, as no systematic …

In vertebrates, conserved noncoding elements (CNEs) are functionally constrained
sequences that can show striking conservation over> 400 million years of evolutionary …

Over the past few decades, the knowledge on genetic defects causing mental retardation
has dramatically increased. In this review, we discuss the importance of balanced …

Introduction Normal gene expression variation is thought to play a central role in inter-
individual variation and susceptibility to disease. Regulatory polymorphisms in cis-acting …