Copy Number Variants (CNVs) represent a prevailing type of structural variation (deletions or duplications) in the human genome. In the last few years, several studies have demonstrated that CNVs represent significant mutations in Alzheimer's disease (AD) hereditability. Currently, innovative high-throughput platforms and bioinformatics algorithms are spreading to screening CNVs involved in different neurological diseases. In particular, the use of custom arrays, based on libraries of probes that can detect significant genomic regions, have greatly improved the resolution of targeted regions and the identification of chromosomal aberrations. In this work, we report the use of NeuroArray, a custom CGH microarray useful to screening and further investigate the role of the recurring genomic aberrations in patients with confirmed or suspected AD. The NeuroArray platform, identifying with a high sensitivity the chromosomal abnormalities in a large panel of AD-related genes and other neurological diseases, has the possibility to become a valid tool for clinical diagnosis.
NeuroArray, A Custom CGH Microarray to Decipher Copy Number Variants in Alzheimer's Disease
Denis Cuccaro;Maria Guarnaccia;Rosario Iemmolo;Sebastiano Cavallaro
2018
Abstract
Copy Number Variants (CNVs) represent a prevailing type of structural variation (deletions or duplications) in the human genome. In the last few years, several studies have demonstrated that CNVs represent significant mutations in Alzheimer's disease (AD) hereditability. Currently, innovative high-throughput platforms and bioinformatics algorithms are spreading to screening CNVs involved in different neurological diseases. In particular, the use of custom arrays, based on libraries of probes that can detect significant genomic regions, have greatly improved the resolution of targeted regions and the identification of chromosomal aberrations. In this work, we report the use of NeuroArray, a custom CGH microarray useful to screening and further investigate the role of the recurring genomic aberrations in patients with confirmed or suspected AD. The NeuroArray platform, identifying with a high sensitivity the chromosomal abnormalities in a large panel of AD-related genes and other neurological diseases, has the possibility to become a valid tool for clinical diagnosis.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.