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

• Tipo: Outra Publicação em Revista Científica Internacional
• Data: 2016

Autores

Cardoso, AR (Autor) Outra; Oliveira, M (Autor) FCUP; Amorim, A (Autor) FCUP; Luisa Azevedo (Autor) FCUP

Revista

Título: Human Genomics

Vol. 10

ISSN: 1473-9542

Editora: Springer Nature

Indexação

ISI Web of Knowledge - 12 Citações

Scopus - 13 Citações

Outras Informações

ID Authenticus: 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.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 6