A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.

Rafehi H, Fearnley LG, Read J, Snell P, Davies KC, Scott L, Gillies G, Thompson GC, Field TA, Eldo A, Bodek S, Butler E, Chen L, Drago J, Goel H, Hackett A, Halmagyi GM, Hannaford A, Kotschet K, Kumar KR, Kumble S, Lee-Archer M, Malhotra A, Paine M, Poon M, Pope K, Reardon K, Ring S, Ronan A, Silsby M, Smyth R, Stutterd C, Wallis M, Waterston J, Wellings T, West K, Wools C, Wu KHC, Szmulewicz DJ, Delatycki MB, Bahlo M, Lockhart PJ

Open source

DOI: 10.1101/gr.279634.124
Published: 2025 Apr 14
Container: Genome research
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1101/gr.279634.124,
  title = {A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.},
  author = {Rafehi H and Fearnley LG and Read J and Snell P and Davies KC and Scott L and Gillies G and Thompson GC and Field TA and Eldo A and Bodek S and Butler E and Chen L and Drago J and Goel H and Hackett A and Halmagyi GM and Hannaford A and Kotschet K and Kumar KR and Kumble S and Lee-Archer M and Malhotra A and Paine M and Poon M and Pope K and Reardon K and Ring S and Ronan A and Silsby M and Smyth R and Stutterd C and Wallis M and Waterston J and Wellings T and West K and Wools C and Wu KHC and Szmulewicz DJ and Delatycki MB and Bahlo M and Lockhart PJ},
  year = {2025},
  journal = {Genome research},
  doi = {10.1101/gr.279634.124},
  url = {https://doi.org/10.1101/gr.279634.124}
}

RIS

TY  - JOUR
TI  - A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.
AU  - Rafehi H
AU  - Fearnley LG
AU  - Read J
AU  - Snell P
AU  - Davies KC
AU  - Scott L
AU  - Gillies G
AU  - Thompson GC
AU  - Field TA
AU  - Eldo A
AU  - Bodek S
AU  - Butler E
AU  - Chen L
AU  - Drago J
AU  - Goel H
AU  - Hackett A
AU  - Halmagyi GM
AU  - Hannaford A
AU  - Kotschet K
AU  - Kumar KR
AU  - Kumble S
AU  - Lee-Archer M
AU  - Malhotra A
AU  - Paine M
AU  - Poon M
AU  - Pope K
AU  - Reardon K
AU  - Ring S
AU  - Ronan A
AU  - Silsby M
AU  - Smyth R
AU  - Stutterd C
AU  - Wallis M
AU  - Waterston J
AU  - Wellings T
AU  - West K
AU  - Wools C
AU  - Wu KHC
AU  - Szmulewicz DJ
AU  - Delatycki MB
AU  - Bahlo M
AU  - Lockhart PJ
PY  - 2025
JO  - Genome research
DO  - 10.1101/gr.279634.124
UR  - https://doi.org/10.1101/gr.279634.124
ER  -

APA

H, R., LG, F., J, R., P, S., KC, D., L, S., G, G., GC, T., TA, F., A, E., S, B., E, B., L, C., J, D., H, G., A, H., GM, H., A, H., K, K., KR, K., S, K., M, L., A, M., M, P., M, P., K, P., K, R., S, R., A, R., M, S., R, S., C, S., M, W., J, W., T, W., K, W., C, W., KHC, W., DJ, S., MB, D., M, B., & PJ, L. (2025). A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.. Genome research. https://doi.org/10.1101/gr.279634.124

Source records

pubmed · retrieved 2026-09-26T20:56:44.329Z