Major influence of repetitive elements on disease-associated copy number variants (CNVs)

• Type: Another Publication in an International Scientific Journal
• Date: 2016

Authors

Cardoso, AR (Author) Other; Oliveira, M (Author) FCUP; Amorim, A (Author) FCUP; Luisa Azevedo (Author) FCUP

Journal

Title: Human Genomics

Vol. 10

ISSN: 1473-9542

Publisher: Springer Nature

Indexing

ISI Web of Knowledge - 12 Citations

Scopus - 13 Citations

Other information

Authenticus ID: P-00M-40M

DOI: 10.1186/s40246-016-0088-9

Abstract (EN): Copy number variants (CNVs) are important contributors to the human pathogenic genetic diversity as demonstrated by a number of cases reported in the literature. The high homology between repetitive elements may guide genomic stability which will give rise to CNVs either by non-allelic homologous recombination (NAHR) or non-homologous end joining (NHEJ). Here, we present a short guide based on previously documented cases of disease-associated CNVs in order to provide a general view on the impact of repeated elements on the stability of the genomic sequence and consequently in the origin of the human pathogenic variome.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 6