Long reads sequencing strategy to localize variants in TTN repeated domains

Titin protein is responsible of muscle elasticity. The TTN gene, composed of 364 exons is subjected to extensive alternative splicing and leads to different isoforms expressed in skeletal and cardiac muscle. Variants in TTN are responsible for myopathies with a wide phenotypic spectrum and autosomal dominant or recessive transmission. The I-band coding domain, highly subject to alternative splicing, contains a three-zone block of repeated sequences with 99% homology. Sequencing and localization of variants in these areas are complex when using short reads sequencing, a second-generation sequencing technique.
Source: Journal of Molecular Diagnostics - Category: Pathology Authors: Tags: Technical Advance Source Type: research