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A trio-based long-read sequencing workflow identifies a pathogenic transposable element insertion in a previously undiagnosed patient

Published Online: 2026-06-22

Authors

Mishima, Hiroyuki https://orcid.org/0000-0001-5050-2509
Watanabe, Yoriko https://orcid.org/0000-0003-4685-8021
Korzun, Uradzislau https://orcid.org/0000-0002-8596-7565
Yoshiura, Koh-ichiro https://orcid.org/0000-0003-3209-5780
Funding

Funding for this research was provided by:

MEXT | Japan Society for the Promotion of Science (JP24K11001)

Japan Agency for Medical Research and Development (JP25ek0109672)

Japan Agency for Medical Research and Development (JP25ek0109760)
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Text and Data Mining valid from 2026-06-22

Version of Record valid from 2026-06-22
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Article History

Received: 14 February 2026

Revised: 10 June 2026

Accepted: 13 June 2026

First Online: 22 June 2026

Competing interests

: The authors declare no competing interests.

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