Variants of transcription factor binding sites (TFBSs) constitute an important part of the
human genome. Current evidence demonstrates close links between nucleotides within …

Rare diseases affect more than 300 million people worldwide. Diagnosing rare diseases is a
major challenge as they have different causes and etiologies. Careful assessment of clinical …

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

Transcription factors (TFs) are proteins that affect gene expression by binding to regulatory
regions of DNA in a sequence specific manner. The binding of TFs to DNA is controlled by …

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 …

Delineating the relative influence of genotype and the environment on DNA methylation is
critical for characterizing the spectrum of organism fitness as driven by adaptation and …

It has been hypothesized that the effects of pollutants on phenotypes can be passed to
subsequent generations through epigenetic inheritance, affecting populations long after the …

Epigenetic information defines tissue identity and is largely inherited in development
through DNA methylation. While studied mostly for mean differences, methylation also …

Coronary heart disease (CHD), one of the leading causes of disability and death worldwide,
is a multifactorial disease whose early diagnosis is demanding. Thus, biomarkers predicting …

Each human genome has tens of thousands of rare genetic variants; however, identifying
impactful rare variants remains a major challenge. We demonstrate how use of personal …