Currently, numerous associations between genetic polymorphisms and various diseases
have been characterized through the Genome-Wide Association Studies. Majority of the …

Single nucleotide polymorphisms (SNPs) are the most common type of variation in the
human genome. The vast majority of SNPs identified in the human genome do not have any …

Whole genome and whole exome sequencing technologies play a very important role in the
studies of the genetic aspects of the pathogenesis of various diseases. The ample use of …

The efficiency at which specific transcription factors interact with DNA may vary in the
presence of single nucleotide polymorphisms (SNPs), and the variation provides an …

Genetic variants associated with human diseases are often located outside the protein
coding regions of the genome. Identification and functional characterization of the regulatory …

Polymorphisms in regulatory DNA regions are believed to play an important role in
determining phenotype, including disease, and in providing raw material for evolution. We …

Single nucleotide polymorphisms (SNPs) can significantly contribute to the cellular level of
the mRNA transcripts encoded by human disease related genes. DNA variations between …

We describe development and application of the new SNP-MED modular software system,
designed to examine the influence of single-nucleotide polymorphisms (SNPs) on the …

Molecular mechanisms of human disease progression often have complex genetic
underpinnings, and sophisticated sequencing approaches coupled with advanced analytics …

Abstract Analysis of human genetic variation can shed light on the problem of the genetic
basis of complex disorders. Nonsynonymous single nucleotide polymorphisms (SNPs) …