Unraveling missing variants through target capture-based long-read sequencing in autosomal recessive disorders.

Lee JS, Ryu KS, Lee H, Lim H, Youn S, Lim H, Chae SW, Sung H, Cho SI, Kim Y, Jang JW, Lee H, Lee JS, Ko JM, Chae JH, Seong MW

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DOI
10.1038/s41431-026-02197-5
Published
2026 Jul 20
Container
European journal of human genetics : EJHG
Publisher
Not recorded
Open access
unknown

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BibTeX

@article{allodium:10.1038/s41431-026-02197-5,
  title = {Unraveling missing variants through target capture-based long-read sequencing in autosomal recessive disorders.},
  author = {Lee JS and Ryu KS and Lee H and Lim H and Youn S and Lim H and Chae SW and Sung H and Cho SI and Kim Y and Jang JW and Lee H and Lee JS and Ko JM and Chae JH and Seong MW},
  year = {2026},
  journal = {European journal of human genetics : EJHG},
  doi = {10.1038/s41431-026-02197-5},
  url = {https://doi.org/10.1038/s41431-026-02197-5}
}

RIS

TY  - JOUR
TI  - Unraveling missing variants through target capture-based long-read sequencing in autosomal recessive disorders.
AU  - Lee JS
AU  - Ryu KS
AU  - Lee H
AU  - Lim H
AU  - Youn S
AU  - Lim H
AU  - Chae SW
AU  - Sung H
AU  - Cho SI
AU  - Kim Y
AU  - Jang JW
AU  - Lee H
AU  - Lee JS
AU  - Ko JM
AU  - Chae JH
AU  - Seong MW
PY  - 2026
JO  - European journal of human genetics : EJHG
DO  - 10.1038/s41431-026-02197-5
UR  - https://doi.org/10.1038/s41431-026-02197-5
ER  - 

APA

JS, L., KS, R., H, L., H, L., S, Y., H, L., SW, C., H, S., SI, C., Y, K., JW, J., H, L., JS, L., JM, K., JH, C., & MW, S. (2026). Unraveling missing variants through target capture-based long-read sequencing in autosomal recessive disorders.. European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-026-02197-5

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