Genetic Variations in Human Diseases

Dear Colleagues, 

Over the past two decades, extensive efforts have been made to catalog human genetic variation and correlate it with phenotypic differences. Most common genetic variations have now been investigated in genome-wide studies and found to be statistically associated with many complex traits, including several important common diseases. Although these studies have provided new biological insights, only a limited amount of the heritable component of any complex trait has been identified, and it remains challenging to elucidate the functional link between associated variants and phenotypic characteristics. Further scientific and technological advances and a clear understanding of the molecular biological meaning of human genetic variability will be essential for future progress in the field. In this Special Issue, we collect original research articles and reviews that aim to examine and present the impact of human genetic variations on diseases in as many different aspects as possible. The focus of our interest is not limited to SNPs; length variations, CNVs, mutations, gene–environment interaction studies, and association and functional analyses in various complex or monogenic diseases (positive and negative results) are warmly welcome.

Dr. Éva Kereszturi
Guest Editor

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