RNA-Seq as the Next Step in Genetic Diagnostics

Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting

Experience the power of multiomic diagnostics: We have implemented RNA-seq using the same dried blood spot sample provided for genomic testing. This streamlined approach enhances our routine diagnostics by clarifying the splicing effect of relevant noncoding variants and delivering more comprehensive genetic testing.

Fig. 3: Summary of the results of the RNA-seq analysis of 113 variants.

Abnormal splicing was observed in 64 variants (57%) with 30 (47%) not located in canonical splicing sites. Insufficient number of reads was the most common cause leading to non-analyzable/unclear results.

Author

  • Aida M. Bertoli-Avella , MD
  • et al.

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