Complex diseases have multifactorial etiologies making actionable diagnostic biomarkers
difficult to identify. Diagnostic research must expand beyond single or a handful of genetic or …

Integrating epigenetic data with genome-wide association study (GWAS) results can reveal
disease mechanisms. The genome sequence itself also shapes the epigenome, with CpG …

An emerging paradigm shift for disease diagnosis is to rely on molecular characterization
beyond traditional clinical and symptom-based examinations. Although genetic alterations …

A spate of high-powered genome-wide association studies (GWAS) have recently identified
numerous single-nucleotide polymorphisms (SNPs) robustly linked with complex disease …

The importance of epigenetics in normal development and tissue-specific gene expression,
as well as in diseases such as cancer, is well established. DNA methylation is a primary …

Recent advances in sequencing technologies provide unprecedented opportunities for
epigenetic biomarker development. Particularly the DNA methylation pattern—which is …

Metastable and somatically heritable patterns of DNA methylation provide an important level
of genomic regulation. In this article, we review methods for analyzing these genome-wide …

Epigenetics, the study of somatically heritable changes in gene expression not related to
changes in the DNA sequence, is a rapidly expanding research field that plays important …

Background DNA epigenetic modifications, such as methylation, are important regulators of
tissue differentiation, contributing to processes of both development and cancer. Profiling the …

Abstract Knowledge of epigenetic alterations in disease is rapidly increasing owing to the
development of genome-wide techniques for their identification. The ever-growing number …