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<p>Trio-based genome sequencing (GS) is useful for genetic analysis of cases in which exome sequencing failed to resolve the disease-causing variants. In this paper, we report two unrelated families with pathogenic deletions (one outside exome-covering genomic regions and the other involving a single exon) successfully identified by GS. Notably, mosaic deletions were found in both families, which were carefully evaluated in detail by analyzing GS data using Integrative Genomics Viewer, breakpoint PCR, quantitative PCR, and digital PCR. This study emphasizes the benefit of trio-based GS, enabling straightforward interpretation, further aided by other confirmatory experimental methods.</p>

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Mosaic deletions detected by genome sequencing in two families

  • 期刊论文

  • 发表日期：

    2025年4月9日

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  • Naomi Tsuchida,
  • Yuri Uchiyama,
  • Kohei Hamanaka,
  • Nobuhiko Okamoto,
  • Ayataka Fujimoto,
  • Hideo Enoki,
  • Eriko Koshimizu,
  • Atsushi Fujita,
  • Kazuharu Misawa,
  • Satoko Miyatake,
  • Takeshi Mizuguchi,
  • Naomichi Matsumoto

摘要

Trio-based genome sequencing (GS) is useful for genetic analysis of cases in which exome sequencing failed to resolve the disease-causing variants. In this paper, we report two unrelated families with pathogenic deletions (one outside exome-covering genomic regions and the other involving a single exon) successfully identified by GS. Notably, mosaic deletions were found in both families, which were carefully evaluated in detail by analyzing GS data using Integrative Genomics Viewer, breakpoint PCR, quantitative PCR, and digital PCR. This study emphasizes the benefit of trio-based GS, enabling straightforward interpretation, further aided by other confirmatory experimental methods.