Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases

Daiki Kato, Satomi Mitsuhashi, Fuyuki Miya, Shinji Saitoh, Nobuhiko Okamoto, Tatsuhiko Tsunoda, Yuta Kochi

Research output: Contribution to journalArticlepeer-review


In genetic testing of Mendelian diseases, it is a bioinformatics challenge to effectively prioritize disease-causing candidate genes listed from massively parallel sequencing. Tissue specificity of the gene expression levels may give a clue because it may reflect tissue-specific disease manifestation. However, considering poor correlations between mRNA and protein expression in some genes, it is not clear whether transcriptomics- or proteomics-based tissue specificity should be used to prioritize candidate genes. Therefore, we compared the efficiency of tissue-specific scores (TS scores) obtained from transcriptome and proteome data in prioritizing candidate genes for whole exome sequencing (WES) analysis of Mendelian disease patients. We show that both Protein and RNA TS scores are useful in prioritizing candidate genes in WES analysis, although diseases like coagulopathies get more benefit from Protein TS score. This study may provide useful evidence in developing new methods to effectively identify novel disease-causing genes.

Original languageEnglish
Pages (from-to)739-742
Number of pages4
JournalJournal of Human Genetics
Issue number12
Publication statusPublished - 2022 Dec

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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