Construction of a trio-based structural variation panel utilizing activated t lymphocytes and long-read sequencing technology

HIGHLIGHTS

  • who: Akihito Otsuki from the Tohoku Medical Megabank Organization, Tohoku University have published the research: Construction of a trio-based structural variation panel utilizing activated T lymphocytes and long-read sequencing technology, in the Journal: (JOURNAL)
  • what: The authors used high-molecularweight DNA specimens derived from activated T lymphocytes for long-read sequence analyses. The numbers of SVs identified in this work (TMM) and previous work (deCODE) are shown in red and blue respectively. The AF of this DEL was 49.3% in the study showing very good agreement with the high frequency in East . . .

     

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