1. Effect of rare SVs on cardiac transcription in DCM
Effect of rare SVs on cardiac transcription in DCM Shown are the gene expression levels in patients carrying a linked heterozygous SV (orange) in comparison with the patients not carrying the corresponding SV (green). Rare SVs are detected in only < 5% of DCM patients and alter myocardial PRELID1P4, ZNF35 and CAMK2A, expression. Horizontal lines represent the median normalized expression, the box limits represent the 1st and 3rd quartile and the error bars represent the 1.5× interquartile range.A short CAMK2A transcript is expressed in human myocardium.The complex SV linked to CAMK2A expression is located in the intron of a cis‐gene. Horizontal lines represent the median normalized expression, the box limits represent the 1st and 3rd quartile and the error bars represent the 1.5× interquartile range. P‐values are obtained from linear regression model.The genomic context of a heterozygous SV carrier was amplified and analyzed using single molecule nanopore sequencing. Shown is the alignment against the reference sequence, detailing the inversion‐deletion event in single DNA molecules.
Jan Haas et al. EMBO Mol Med. 2017;emmm
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