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Updated: Jun 18, 2026

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
Published on: January 9, 2020
Human genome variation in health and in neuropsychiatric disorders
Alena Buretić-Tomljanović1, Drasko Tomljanović
1Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, Croatia. alena@medri.hr
Objectives:
Variation in the human genome may explain genetic contributions to complex traits and common diseases.
Findings:
Until recently, single nucleotide polymorphisms were thought to be the most prevalent form of interindividual genetic variation. However, structural genomic rearrangements such as deletions, duplications, and inversions lead to variation in gene copy number and contribute even more to genomic diversity. Other sources of genomic variation include noncoding genes, pseudogenes, and mobile genetic elements (transposons).
Conclusions:
Genome dynamics, including changes in gene number and position as well as epigenetic modifications of coding and noncoding sequences, can affect regulation of gene expression and may contribute to the variability of complex phenotypes.
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