Article
Genotype Complements the Phenotype: Identification of the Pathogenicity of an LMNA Splice Variant by Nanopore Long-Read Sequencing in a Large DCM Family.
International journal of molecular sciences - 13 Oct 2022
Sedaghat-Hamedani Farbod, Rebs Sabine, Kayvanpour Elham, Zhu Chenchen, Amr Ali, Müller Marion, Haas Jan, Wu Jingyan, Steinmetz Lars M, Ehlermann Philipp, Streckfuss-Bömeke Katrin, Frey Norbert, Meder Benjamin
Abstract excerpt
Dilated cardiomyopathy (DCM) is a common cause of heart failure (HF) and is of familial origin in 20−40% of cases. Genetic testing by next-generation sequencing (NGS) has yielded a definite diagnosis in many cases; however, some remain elusive. In this study, we used a combination of NGS, human-induced pluripotent-stem-cell-derived cardiomyocytes (iPSC-CMs) and nanopore long-read sequencing to identify the causal...
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