1. Study design
Study design DNA and total RNA of DCM patients were isolated from left ventricular myocardial biopsies and peripheral blood. Next‐generation sequencing was performed to obtain whole‐genome sequences (WGS) and genome‐wide transcription profiles. In addition, methylation profiles were assessed using Illumina 450K chip assay and used for validation of genomic structural variants (SVs). Long‐range PCR (LR‐PCR) and long‐read nanopore sequencing were performed to exemplarily validate SVs. Identified SVs and SNVs from WGS were correlated to expression quantitative traits in an SNV/SV‐expression Quantitative Trait Loci analysis.Scheme visualizing the different structural variations studied. In a large deletion, distinct genomic loci are completely deleted on a genomic strand, whereas a duplication leads to multiple copies of a genomic loci. Inversions contain genomic sequences in an opposite direction.
Jan Haas et al. EMBO Mol Med. 2017;emmm
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