LLM-Assisted Reanalysis of Unsolved Rare Disease Genomes Increases Diagnostic Yield

Aaron Jaech, Morgan Cheatham, Suyash S. Shringarpure, Casie A. Genetti, Pratiksha Pradhan, Aarti Bagul, Trishan Panch, Benjamin Rader, Kara Sewalk, Rebecca Distler, Katherine N. Anderson, Melissa Stewart, Sarah Lejfer, David C. Glahn, Richard D. Goldstein, Monica Wojcik, Alan H. Beggs, John S. Brownstein, Catherine A. Brownstein

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DOI: 10.1056/aics2501343
Published: 2026-06-25
Container: NEJM AI
Publisher: Massachusetts Medical Society
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1056/aics2501343,
  title = {LLM-Assisted Reanalysis of Unsolved Rare Disease Genomes Increases Diagnostic Yield},
  author = {Aaron Jaech and Morgan Cheatham and Suyash S. Shringarpure and Casie A. Genetti and Pratiksha Pradhan and Aarti Bagul and Trishan Panch and Benjamin Rader and Kara Sewalk and Rebecca Distler and Katherine N. Anderson and Melissa Stewart and Sarah Lejfer and David C. Glahn and Richard D. Goldstein and Monica Wojcik and Alan H. Beggs and John S. Brownstein and Catherine A. Brownstein},
  year = {2026},
  journal = {NEJM AI},
  doi = {10.1056/aics2501343},
  url = {https://doi.org/10.1056/aics2501343}
}

RIS

TY  - JOUR
TI  - LLM-Assisted Reanalysis of Unsolved Rare Disease Genomes Increases Diagnostic Yield
AU  - Aaron Jaech
AU  - Morgan Cheatham
AU  - Suyash S. Shringarpure
AU  - Casie A. Genetti
AU  - Pratiksha Pradhan
AU  - Aarti Bagul
AU  - Trishan Panch
AU  - Benjamin Rader
AU  - Kara Sewalk
AU  - Rebecca Distler
AU  - Katherine N. Anderson
AU  - Melissa Stewart
AU  - Sarah Lejfer
AU  - David C. Glahn
AU  - Richard D. Goldstein
AU  - Monica Wojcik
AU  - Alan H. Beggs
AU  - John S. Brownstein
AU  - Catherine A. Brownstein
PY  - 2026
JO  - NEJM AI
DO  - 10.1056/aics2501343
UR  - https://doi.org/10.1056/aics2501343
ER  -

APA

Jaech, A., Cheatham, M., Shringarpure, S. S., Genetti, C. A., Pradhan, P., Bagul, A., Panch, T., Rader, B., Sewalk, K., Distler, R., Anderson, K. N., Stewart, M., Lejfer, S., Glahn, D. C., Goldstein, R. D., Wojcik, M., Beggs, A. H., Brownstein, J. S., & Brownstein, C. A. (2026). LLM-Assisted Reanalysis of Unsolved Rare Disease Genomes Increases Diagnostic Yield. NEJM AI. https://doi.org/10.1056/aics2501343

Source records

crossref · retrieved 2026-09-25T11:00:26.172Z