Article
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.
Circulation. Cardiovascular genetics - 1 Oct 2016
Hastings Robert, de Villiers Carin P, Hooper Charlotte, Ormondroyd Liz, Pagnamenta Alistair, Lise Stefano, Salatino Silvia, Knight Samantha J L, Taylor Jenny C, Thomson Kate L, Arnold Linda, Chatziefthimiou Spyros D, Konarev Petr V, Wilmanns Matthias, Ehler Elisabeth, Ghisleni Andrea, Gautel Mathias, Blair Edward, Watkins Hugh, Gehmlich Katja
Abstract excerpt
BACKGROUND: High throughput next-generation sequencing techniques have made whole genome sequencing accessible in clinical practice; however, the abundance of variation in the human genomes makes the identification of a disease-causing mutation on a background of benign rare variants challenging. METHODS AND RESULTS: Here we combine whole genome sequencing with linkage analysis in a 3-generation family affected...
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