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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https://www.medrxiv.org/content/10.1101/2022.01.28.22270002v1.full.pdfLicence: CC BY-NC-ND

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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

@misc{9c9b9e15c922470b96e4743f562485d9,

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",

type = "Other",

}

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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