Semmelweis University - Biophysics Data Access Committee

Dr Gábor Bedics
bedics.gabor@semmelweis.hu

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Dataset ID	Description	Technology	Samples
EGAD50000000066	Heterozygous (HET) truncating mutations in the TTN gene (TTNtv) encoding the giant titin protein are the most common genetic cause of dilated cardiomyopathy (DCM). We investigated 127 clinically identified DCM human cardiac samples with targeted sequencing using the TruSight Cardio panel on an Illumina MiSeq system with a special focus on TTNtvs. This dataset belongs to the publication of Kellermayer, D et al. Truncated titin is integrated into the human dilated cardiomyopathic sarcomere	Illumina MiSeq	127