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 Non-Compaction.

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 Non-Compaction.

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. <...

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Bibliographic Details
Main Authors: Hastings, R, de Villiers, C, Hooper, C, Ormondroyd, L, Pagnamenta, A, Lise, S, Salatino, S, Knight, S, Taylor, J, Thompson, K, Arnold, L, Chatziefthimiou, S, Konarev, P, Wilmanns, M, Ehler, E, Ghisleni, A, Gautel, M, Blair, E, Watkins, H, Gehmlich, K
Format: Journal article
Published: Lippincott, Williams and Wilkins 2016

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