A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

Alexander J.M. Blakes; Htoo Wai; Ian Davies; Hassan E. Moledian; April Ruiz; Tessy Thomas; David Bunyan; N Simon Thomas; Christine P. Burren; Lynn Greenhalgh; Melissa Lees; Amanda Pichini; Sarah F. Smithson; Ana Lisa Taylor Tavares; Peter O’Donovan; Andrew G.L. Douglas; Nicola Whiffin; Diana Baralle; Jenny Lord

doi:10.1101/2022.01.28.22270002

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

Alexander J.M. Blakes, Htoo Wai, Ian Davies, Hassan E. Moledian, April Ruiz, Tessy Thomas, David Bunyan, N Simon Thomas, Christine P. Burren, Lynn Greenhalgh, Melissa Lees, Amanda Pichini, Sarah F. Smithson, Ana Lisa Taylor Tavares, Peter O’Donovan, Andrew G.L. Douglas, Nicola Whiffin, Diana Baralle, Jenny Lord

Research output: Other contribution

Original language	Undefined/Unknown
DOIs	https://doi.org/10.1101/2022.01.28.22270002
Publication status	Accepted/In press - 31 Jan 2022

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Blakes, A. J. M., Wai, H., Davies, I., Moledian, H. E., Ruiz, A., Thomas, T., Bunyan, D., Thomas, N. S., Burren, C. P., Greenhalgh, L., Lees, M., Pichini, A., Smithson, S. F., Tavares, A. L. T., O’Donovan, P., Douglas, A. G. L., Whiffin, N., Baralle, D., & Lord, J. (2022, Jan 31). A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project. https://doi.org/10.1101/2022.01.28.22270002

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title = "A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project",

author = "Blakes, {Alexander J.M.} and Htoo Wai and Ian Davies and Moledian, {Hassan E.} and April Ruiz and Tessy Thomas and David Bunyan and Thomas, {N Simon} and Burren, {Christine P.} and Lynn Greenhalgh and Melissa Lees and Amanda Pichini and Smithson, {Sarah F.} and Tavares, {Ana Lisa Taylor} and Peter O{\textquoteright}Donovan and Douglas, {Andrew G.L.} and Nicola Whiffin and Diana Baralle and Jenny Lord",

year = "2022",

month = jan,

day = "31",

doi = "10.1101/2022.01.28.22270002",

language = "Undefined/Unknown",

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Blakes, AJM, Wai, H, Davies, I, Moledian, HE, Ruiz, A, Thomas, T, Bunyan, D, Thomas, NS, Burren, CP, Greenhalgh, L, Lees, M, Pichini, A, Smithson, SF, Tavares, ALT, O’Donovan, P, Douglas, AGL, Whiffin, N, Baralle, D & Lord, J 2022, A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.. https://doi.org/10.1101/2022.01.28.22270002

TY - GEN

T1 - A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

AU - Blakes, Alexander J.M.

AU - Wai, Htoo

AU - Davies, Ian

AU - Moledian, Hassan E.

AU - Ruiz, April

AU - Thomas, Tessy

AU - Bunyan, David

AU - Thomas, N Simon

AU - Burren, Christine P.

AU - Greenhalgh, Lynn

AU - Lees, Melissa

AU - Pichini, Amanda

AU - Smithson, Sarah F.

AU - Tavares, Ana Lisa Taylor

AU - O’Donovan, Peter

AU - Douglas, Andrew G.L.

AU - Whiffin, Nicola

AU - Baralle, Diana

AU - Lord, Jenny

PY - 2022/1/31

Y1 - 2022/1/31

UR - https://doi.org/10.1101/2022.01.28.22270002

U2 - 10.1101/2022.01.28.22270002

DO - 10.1101/2022.01.28.22270002

M3 - Other contribution

ER -

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

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