MRSD: a novel quantitative approach for assessing suitability of RNA-seq in the clinical investigation of mis-splicing in Mendelian disease

Charlie F. Rowlands; Algy Taylor; Gillian Rice; Nicola Whiffin; Hildegard Nikki Hall; William G. Newman; Graeme C.M. Black; Raymond T. O’Keefe; Simon Hubbard; Andrew G.L. Douglas; Diana Baralle; Tracy A. Briggs; Jamie M. Ellingford

doi:10.1101/2021.03.19.21253973

MRSD: a novel quantitative approach for assessing suitability of RNA-seq in the clinical investigation of mis-splicing in Mendelian disease

Charlie F. Rowlands, Algy Taylor, Gillian Rice, Nicola Whiffin, Hildegard Nikki Hall, William G. Newman, Graeme C.M. Black, Raymond T. O’Keefe, Simon Hubbard, Andrew G.L. Douglas, Diana Baralle, Tracy A. Briggs, Jamie M. Ellingford

Division of Evolution, Infection and Genomics

Research output: Contribution to journal › Article › peer-review

Original language	English
Journal	medRxiv
DOIs	https://doi.org/10.1101/2021.03.19.21253973
Publication status	Published - 20 Mar 2021

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Rowlands, C. F., Taylor, A., Rice, G., Whiffin, N., Hall, H. N., Newman, W. G., Black, G. C. M., O’Keefe, R. T., Hubbard, S., Douglas, A. G. L., Baralle, D., Briggs, T. A., & Ellingford, J. M. (2021). MRSD: a novel quantitative approach for assessing suitability of RNA-seq in the clinical investigation of mis-splicing in Mendelian disease. medRxiv. https://doi.org/10.1101/2021.03.19.21253973

@article{33a9ab017ee445bc972c17332482516e,

title = "MRSD: a novel quantitative approach for assessing suitability of RNA-seq in the clinical investigation of mis-splicing in Mendelian disease",

author = "Rowlands, {Charlie F.} and Algy Taylor and Gillian Rice and Nicola Whiffin and Hall, {Hildegard Nikki} and Newman, {William G.} and Black, {Graeme C.M.} and O{\textquoteright}Keefe, {Raymond T.} and Simon Hubbard and Douglas, {Andrew G.L.} and Diana Baralle and Briggs, {Tracy A.} and Ellingford, {Jamie M.}",

year = "2021",

month = mar,

day = "20",

doi = "10.1101/2021.03.19.21253973",

language = "English",

journal = "medRxiv",

publisher = "Cold Spring Harbor Laboratory Press",

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TY - JOUR

T1 - MRSD: a novel quantitative approach for assessing suitability of RNA-seq in the clinical investigation of mis-splicing in Mendelian disease

AU - Rowlands, Charlie F.

AU - Taylor, Algy

AU - Rice, Gillian

AU - Whiffin, Nicola

AU - Hall, Hildegard Nikki

AU - Newman, William G.

AU - Black, Graeme C.M.

AU - O’Keefe, Raymond T.

AU - Hubbard, Simon

AU - Douglas, Andrew G.L.

AU - Baralle, Diana

AU - Briggs, Tracy A.

AU - Ellingford, Jamie M.

PY - 2021/3/20

Y1 - 2021/3/20

UR - https://doi.org/10.1101/2021.03.19.21253973

U2 - 10.1101/2021.03.19.21253973

DO - 10.1101/2021.03.19.21253973

M3 - Article

JO - medRxiv

JF - medRxiv

ER -

MRSD: a novel quantitative approach for assessing suitability of RNA-seq in the clinical investigation of mis-splicing in Mendelian disease

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