Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Primary Immunodeficiency Consortium for the NIHR Bioresource

doi:10.1038/s41586-020-2265-1

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Primary Immunodeficiency Consortium for the NIHR Bioresource

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

Original language	English
Pages (from-to)	90-95
Number of pages	6
Journal	Nature
Volume	583
Issue number	7814
DOIs	https://doi.org/10.1038/s41586-020-2265-1
Publication status	Published - Jul 2 2020
Externally published	Yes

ASJC Scopus Subject Areas

General

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1038/s41586-020-2265-1

Cite this

@article{0e1c359a5f1e4f87b66acf5747ab5233,

title = "Whole-genome sequencing of a sporadic primary immunodeficiency cohort",

author = "{Primary Immunodeficiency Consortium for the NIHR Bioresource} and Thaventhiran, {James E.D.} and {Lango Allen}, Hana and Burren, {Oliver S.} and William Rae and Daniel Greene and Emily Staples and Zinan Zhang and Farmery, {James H.R.} and Ilenia Simeoni and Elizabeth Rivers and Jesmeen Maimaris and Penkett, {Christopher J.} and Jonathan Stephens and Deevi, {Sri V.V.} and Alba Sanchis-Juan and Gleadall, {Nicholas S.} and Thomas, {Moira J.} and Sargur, {Ravishankar B.} and Pavels Gordins and Baxendale, {Helen E.} and Matthew Brown and Paul Tuijnenburg and Austen Worth and Steven Hanson and Linger, {Rachel J.} and Buckland, {Matthew S.} and Rayner-Matthews, {Paula J.} and Gilmour, {Kimberly C.} and Crina Samarghitean and Seneviratne, {Suranjith L.} and Sansom, {David M.} and Lynch, {Andy G.} and Karyn Megy and Eva Ellinghaus and David Ellinghaus and Jorgensen, {Silje F.} and Karlsen, {Tom H.} and Stirrups, {Kathleen E.} and Cutler, {Antony J.} and Kumararatne, {Dinakantha S.} and Anita Chandra and Edgar, {J. David M.} and Archana Herwadkar and Nichola Cooper and Sofia Grigoriadou and Huissoon, {Aarnoud P.} and Sarah Goddard and Stephen Jolles and Catharina Schuetz and Felix Boschann",

note = "Funding Information: Acknowledgements The NBR-RD PID Consortium is part of the NIHR BioResource, for which funding was provided by the NIHR (NIHR, grant number RG65966). We acknowledge the participation of all NIHR BioResource volunteers, and thank the NIHR BioResource centre and staff for their contribution. J.E.D.T. is supported by the Medical Research Council (MRC) (RG95376 and MR/L006197/1); A.J.T. is supported by the Wellcome Trust (104807/Z/14/Z) and the NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London; K.G.C.S. is supported by the MRC (programme grant MR/L019027) and is a Wellcome Investigator; A.J.C. was supported by the Wellcome Trust (091157/Z/10/Z, 107212/Z/15/Z, 100140/Z/12/Z, 203141/Z/16/Z), JDRF (9-2011-253, 5-SRA-2015-130-A-N), NIHR Oxford Biomedical Research Centre and NIHR Cambridge Biomedical Research Centre; E.E. has received funding from the European Union Seventh Framework Programme (FP7-PEOPLE-2013-COFUND) under grant agreement number 609020-Scientia Fellows; E.R. is supported by the Wellcome Trust (201250/Z/16/Z); D.E. is supported by the German Federal Ministry of Education and Research (BMBF) within the framework of the e:Med research and funding concept (SysInflame grant 01ZX1306A; GB-XMAP grant 01ZX1709) and funded by the Deutsche Forschungsgemeinschaft (DFG; German Research Foundation) under Germany{\textquoteright}s Excellence Strategy (EXC 2167-390884018). The NIHR Cambridge Biomedical Research Centre (BRC) is a partnership between Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge, funded by the NIHR. This research was co-funded by the support listed above and the NIHR Cambridge BRC. Publisher Copyright: {\textcopyright} 2020, The Author(s), under exclusive licence to Springer Nature Limited.",

year = "2020",

month = jul,

day = "2",

doi = "10.1038/s41586-020-2265-1",

language = "English",

volume = "583",

pages = "90--95",

journal = "Nature",

issn = "0028-0836",

publisher = "Nature Publishing Group",

number = "7814",

}

TY - JOUR

T1 - Whole-genome sequencing of a sporadic primary immunodeficiency cohort

AU - Primary Immunodeficiency Consortium for the NIHR Bioresource

AU - Thaventhiran, James E.D.

AU - Lango Allen, Hana

AU - Burren, Oliver S.

AU - Rae, William

AU - Greene, Daniel

AU - Staples, Emily

AU - Zhang, Zinan

AU - Farmery, James H.R.

AU - Simeoni, Ilenia

AU - Rivers, Elizabeth

AU - Maimaris, Jesmeen

AU - Penkett, Christopher J.

AU - Stephens, Jonathan

AU - Deevi, Sri V.V.

AU - Sanchis-Juan, Alba

AU - Gleadall, Nicholas S.

AU - Thomas, Moira J.

AU - Sargur, Ravishankar B.

AU - Gordins, Pavels

AU - Baxendale, Helen E.

AU - Brown, Matthew

AU - Tuijnenburg, Paul

AU - Worth, Austen

AU - Hanson, Steven

AU - Linger, Rachel J.

AU - Buckland, Matthew S.

AU - Rayner-Matthews, Paula J.

AU - Gilmour, Kimberly C.

AU - Samarghitean, Crina

AU - Seneviratne, Suranjith L.

AU - Sansom, David M.

AU - Lynch, Andy G.

AU - Megy, Karyn

AU - Ellinghaus, Eva

AU - Ellinghaus, David

AU - Jorgensen, Silje F.

AU - Karlsen, Tom H.

AU - Stirrups, Kathleen E.

AU - Cutler, Antony J.

AU - Kumararatne, Dinakantha S.

AU - Chandra, Anita

AU - Edgar, J. David M.

AU - Herwadkar, Archana

AU - Cooper, Nichola

AU - Grigoriadou, Sofia

AU - Huissoon, Aarnoud P.

AU - Goddard, Sarah

AU - Jolles, Stephen

AU - Schuetz, Catharina

AU - Boschann, Felix

N1 - Funding Information: Acknowledgements The NBR-RD PID Consortium is part of the NIHR BioResource, for which funding was provided by the NIHR (NIHR, grant number RG65966). We acknowledge the participation of all NIHR BioResource volunteers, and thank the NIHR BioResource centre and staff for their contribution. J.E.D.T. is supported by the Medical Research Council (MRC) (RG95376 and MR/L006197/1); A.J.T. is supported by the Wellcome Trust (104807/Z/14/Z) and the NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London; K.G.C.S. is supported by the MRC (programme grant MR/L019027) and is a Wellcome Investigator; A.J.C. was supported by the Wellcome Trust (091157/Z/10/Z, 107212/Z/15/Z, 100140/Z/12/Z, 203141/Z/16/Z), JDRF (9-2011-253, 5-SRA-2015-130-A-N), NIHR Oxford Biomedical Research Centre and NIHR Cambridge Biomedical Research Centre; E.E. has received funding from the European Union Seventh Framework Programme (FP7-PEOPLE-2013-COFUND) under grant agreement number 609020-Scientia Fellows; E.R. is supported by the Wellcome Trust (201250/Z/16/Z); D.E. is supported by the German Federal Ministry of Education and Research (BMBF) within the framework of the e:Med research and funding concept (SysInflame grant 01ZX1306A; GB-XMAP grant 01ZX1709) and funded by the Deutsche Forschungsgemeinschaft (DFG; German Research Foundation) under Germany’s Excellence Strategy (EXC 2167-390884018). The NIHR Cambridge Biomedical Research Centre (BRC) is a partnership between Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge, funded by the NIHR. This research was co-funded by the support listed above and the NIHR Cambridge BRC. Publisher Copyright: © 2020, The Author(s), under exclusive licence to Springer Nature Limited.

PY - 2020/7/2

Y1 - 2020/7/2

UR - http://www.scopus.com/inward/record.url?scp=85085120745&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85085120745&partnerID=8YFLogxK

U2 - 10.1038/s41586-020-2265-1

DO - 10.1038/s41586-020-2265-1

M3 - Article

C2 - 32499645

AN - SCOPUS:85085120745

SN - 0028-0836

VL - 583

SP - 90

EP - 95

JO - Nature

JF - Nature

IS - 7814

ER -

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

ASJC Scopus Subject Areas

UN SDGs

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