Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy

• Author(s): Almeida, Rita Mendes de ; Tavares, Joana ; Martins, Sandra ; Carvalho, Teresa ; Enguita, Francisco J. ; Brito, Dulce ; Fonseca, Maria Carmo ; Lopes, Luís Rocha
• Date: 2017
• Persistent ID: http://hdl.handle.net/10451/34199
• Origin: Repositório da Universidade de Lisboa
• Document Type: Journal article
• Language: English
• Contributor(s): Repositório Científico de Acesso Aberto da ULisboa

Description

High throughput sequencing technologies have revolutionized the identification of mutations responsible for genetic diseases such as hypertrophic cardiomyopathy (HCM). However, approximately 50% of individuals with a clinical diagnosis of HCM have no causal mutation identified. This may be due to the presence of pathogenic mutations located deep within the introns, which are not detected by conventional sequencing analysis restricted to exons and exon-intron boundaries.