Long-read RNA sequencing improves isoform and splicing outlier detection in whole blood from rare disease trios.

Ma J, Weisburd B, DiTroia S, Romo L, Covill LE, O'Leary M, Khorgade A, Al'Khafaji A, O'Donnell-Luria A, Ganesh VS

DOI: 10.64898/2026.08.18.26360476
Published: 2026 Aug 21
Container: medRxiv : the preprint server for health sciences
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.64898/2026.08.18.26360476,
  title = {Long-read RNA sequencing improves isoform and splicing outlier detection in whole blood from rare disease trios.},
  author = {Ma J and Weisburd B and DiTroia S and Romo L and Covill LE and O'Leary M and Khorgade A and Al'Khafaji A and O'Donnell-Luria A and Ganesh VS},
  year = {2026},
  journal = {medRxiv : the preprint server for health sciences},
  doi = {10.64898/2026.08.18.26360476},
  url = {https://doi.org/10.64898/2026.08.18.26360476}
}

RIS

TY  - JOUR
TI  - Long-read RNA sequencing improves isoform and splicing outlier detection in whole blood from rare disease trios.
AU  - Ma J
AU  - Weisburd B
AU  - DiTroia S
AU  - Romo L
AU  - Covill LE
AU  - O'Leary M
AU  - Khorgade A
AU  - Al'Khafaji A
AU  - O'Donnell-Luria A
AU  - Ganesh VS
PY  - 2026
JO  - medRxiv : the preprint server for health sciences
DO  - 10.64898/2026.08.18.26360476
UR  - https://doi.org/10.64898/2026.08.18.26360476
ER  -

APA

J, M., B, W., S, D., L, R., LE, C., M, O., A, K., A, A., A, O., & VS, G. (2026). Long-read RNA sequencing improves isoform and splicing outlier detection in whole blood from rare disease trios.. medRxiv : the preprint server for health sciences. https://doi.org/10.64898/2026.08.18.26360476

Source records

pubmed · retrieved 2026-11-10T11:04:05.284Z