Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders

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説明

The search for causative mutations in human genetic disorders has mainly focused on mutations that disrupt coding regions or splice sites. Recently, however, it has been reported that mutations creating splice sites can also cause a range of genetic disorders. In this study, we identified 5656 candidate splice-site-creating mutations (SCMs), of which 3942 are likely to be pathogenic, in 4054 genes responsible for genetic disorders. Reanalysis of exome data obtained from ciliopathy patients led us to identify 38 SCMs as candidate causative mutations. We estimate that, by focusing on SCMs, the increase in diagnosis rate is approximately 5.9–8.5% compared to the number of already known pathogenic variants. This finding suggests that SCMs are mutations worth focusing on in the search for causative mutations of genetic disorders.

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詳細情報 詳細情報について

  • CRID
    1050299981545214976
  • ISSN
    20567944
  • HANDLE
    2324/7174412
  • 本文言語コード
    en
  • 資料種別
    journal article
  • データソース種別
    • IRDB

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