Fig 1.
Graphical representation of the workflow.
*Only one RNA extraction from each storage condition from patient 5. Abbreviations: DV200: Percentage of RNA fragments > 200 nucleotides, FFPE: Formalin-fixed, paraffin-embedded, RIN: RNA integrity number, SNP = Single nucleotide polymorphism. Created with Biorender.com.
Table 1.
Descriptive characteristics of the study population.
Fig 2.
Alignment statistics and RNA subtypes from fresh, frozen, and formalin-fixed, paraffin-embedded (FFPE) cardiac tissue.
(A) Stacked bar plots of the proportions of unmapped and uniquely mapped reads per patient. (B) Stacked bar plots of the proportions of RNA subtypes. Abbreviations: F = Fresh tissue, FF = Frozen tissue, lncRNA = Long non-coding RNA, miRNA = MicroRNA, mtRNA = Mitochondrial RNA, rRNA = Ribosomal RNA, QC = Quality control.
Fig 3.
Multidimensional scaling plots of gene expression profiles of the protein-coding, mitochondrial, and long non-coding RNA subsets.
Colours correspond to storage condition (red = fresh tissue, green = frozen tissue, blue = FFPE tissue). Abbreviations: FC = Fold-change, FFPE = Formalin-fixed, paraffin-embedded.
Fig 4.
Spearman’s correlation coefficients of intra-individual gene expression levels from fresh, frozen, and formalin-fixed, paraffin-embedded (FFPE) tissue.
Correlations were calculated for all 10 patients based on the protein-coding, mitochondrial, and long non-coding RNAs when comparing fresh, frozen, and FFPE tissues.
Fig 5.
Concordance between DNA and RNA variants among different storage conditions.
(A) Proportion of concordant (Het = heterozygous, Hom = homozygous) and discordant (DC) variant calls in loci with read depth (DP) ≥ 75. (B) Proportion of detected variants with read depths too low (DP<75) for reliable variant calls. Abbreviations: FFPE = Formalin-fixed, paraffin-embedded.