Publications

Publication: Nature

Minna K. Karjalainen, Savita Karthikeyan, Clare Oliver-Williams, Eeva Sliz, Elias Allara, Wing Tung Fung, Praveen Surendran, Weihua Zhang, Pekka Jousilahti, Kati Kristiansson, Veikko Salomaa, Matt Goodwin, David A. Hughes, Michael Boehnke, Lilian Fernandes Silva, Xianyong Yin, Anubha Mahajan, Matt J. Neville, Natalie R. van Zuydam, Renée de Mutsert, Ruifang Li-Gao, Dennis O. Mook-Kanamori, Ayse Demirkan, Jun Liu, China Kadoorie Biobank Collaborative Group, Estonian Biobank Research Team, FinnGen, …Johannes Kettunen

6 March 2024

Summary

Genome-wide association analyses using high-throughput metabolomics platforms have led to novel insights into the biology of human metabolism. This detailed knowledge of the genetic determinants of systemic metabolism has been pivotal for uncovering how genetic pathways influence biological mechanisms and complex diseases. Researchers present a genome-wide association study for 233 circulating metabolic traits quantified by nuclear magnetic resonance spectroscopy in up to 136,016 participants from 33 cohorts. 

Publication: Nature Immunology

Jing Hua Zhao, David Stacey, Niclas Eriksson, Erin Macdonald-Dunlop, Asa K Hedman et al

18 July 2023

Aberrant inflammatory responses play a role in pathogenesis of many diseases, including autoimmune conditions, cardiovascular diseases and cancers. In this study of genetic influences on inflammation-related proteins, an international team conducted a genome-wide association study of 91 plasma proteins in ~15,000 participants within the SCALLOP Consortium.

Having identified 180 gene-protein associations, they integrated with gene expression and disease genetics to provide insights into disease aetiology, implicating FGF5 in hypertension and cardiovascular disease, and lymphotoxin-α in multiple sclerosis.

The team identified both shared and distinct effects of specific proteins across immune mediated diseases, including directionally discordant functions for CD40 in rheumatoid arthritis versus multiple sclerosis and inflammatory bowel disease, and a role for CXCL5 in the aetiology of ulcerative colitis UC but not Crohns disease.

These results provide a powerful resource to understand the role of chronic inflammation in a wide range of diseases and facilitate future drug target prioritisation.

Publication: Nature Genetics

Foad J. Rouhani, Xueqing Zou, Petr Danecek, Cherif Badja, Tauanne Dias Amarante, Gene Koh, Qianxin Wu, Yasin Memari, Richard Durbin, Inigo Martincorena, Andrew R. Bassett, Daniel Gaffney & Serena Nik-Zainal

11 August 2022

Summary

DNA damage caused by factors such as ultraviolet radiation affect nearly three-quarters of all stem cell lines derived from human skin cells, say Cambridge researchers, who argue that whole genome sequencing is essential for confirming if cell lines are usable. Read the full news story.

Publication: HGG Advances

Courtney E. French, Helen Dolling, Karyn Mégy, Alba Sanchis-Juan, Ajay Kumar, Isabelle Delon, Matthew Wakeling, Lucy Mallin, Shruti, Agrawal, Topun Austin, Florence Walston, Soo-Mi Park, Alasdair, Parker, Chinthika Piyasena, Kimberley Bradbury, Sian Ellard, David H.Rowitch, LucyRaymond

24 May 2022

Summary

More than a third of severely sick babies referred for rapid whole genome sequencing received a vital genetic diagnosis. Results from the latest Cambridge genomic study supported by NIHR Cambridge BRC and NIHR BioResource, confirm rapid whole genome sequencing (WGS) as an effective early test to aid diagnosis in severely ill children. Read the full story. 

Publication: British Journal of Cancer

Jamie Trotman, Ruth Armstrong, Helen Firth, Claire Trayers, James Watkins, Kieren Allinson, James C. Nicholson, G. A. Amos Burke, Sam Behjati, Matthew J. Murray, Catherine E. Hook, Patrick Tarpey

22 April 2022

Summary

As part of the national 100,000 Genome Project, researchers recruited from 36 children, across 23 different solid tumour types. Whole genome sequencing (WGS) data from paired tumour (fresh-frozen tissue) and matched normal (blood) samples was analysed.  The results for each case were clinically reviewed at the Cambridge paediatric oncology Genomic Tumour Advisory Board (GTAB), and formal report of the results was written.

Publication: Nature Cancer

Xueqing Zou, Gene Ching Chiek Koh, Arjun Scott Nanda, Andrea Degasperi, Katie Urgo, Theodoros I. Roumeliotis, Chukwuma A. Agu, Cherif Badja, Sophie Momen, Jamie Young, Tauanne Dias Amarante, Lucy Side, Glen Brice, Vanesa Perez-Alonso, Daniel Rueda, Celine Gomez, Wendy Bushell, Rebecca Harris, Jyoti S. Choudhary, Genomics England Research Consortium, Josef Jiricny, William C. Skarnes & Serena Nik-Zainal

26 April 2021

Summary

A new way to identify tumours that could be sensitive to particular immunotherapies has been developed using data from thousands of NHS cancer patient samples sequenced through the 100,000 Genomes Project.  The MMRDetect clinical algorithm makes it possible to identify tumours that have ‘mismatch repair deficiencies’ and then improve the personalisation of cancer therapies to exploit those weaknesses.

Publication: Ultrasound in Obstetrics and Gynecology

F. Mone,  R. Y. Eberhardt, M. E. Hurles,  D. J. McMullan,  E. R. Maher,  J. Lord,  L. S. Chitty,  E. Dempsey,  T. Homfray,  J. L. Giordano,  R. J. Wapner,  L. Sun, T. N. Sparks,  M. E. Norton, M. D. Kilby

13 April 2021

Summary

Use of prenatal next generation sequencing in both isolated and non‐isolated NIHF should be considered in developing clinical pathways.

Publication: Nature

Luiza Moore, Daniel Leongamornlert, Tim H. H. Coorens, Mathijs A. Sanders, Peter Ellis, Stefan Dentro, Kevin Dawson, Tim Butler, Raheleh Rahbari, Thomas J Mitchell, Francesco Maura, Jyoti Nangalia, Patrick S. Tarpey, Simon F. Brunner, Henry Lee-Six, Yvette Hooks, Sarah Moody, Krishnaa Mahbubani, Mercedes Jimenez-Linan, Jan J. Brosens, Christine A. Iacobuzio-Donahue, Inigo Martincorena, Kourosh Saeb-Parsy, Peter J. Campbell, Michael R. Stratton

22 April 2020

Summary: 

This paper looks at somatic mutation (changes in the DNA) in healthy human tissue in the endometrium (womb lining) and provides insights into the earliest stages of uterine cancer development, which is the fourth most common cancer in women in the UK.

Many cells in the inner lining of the uterus carry ‘cancer-driving’ mutations that frequently arise early in life. Using whole-genome sequencing to better understand the genetic changes in healthy endometrial tissue, the researchers found that a high proportion of cells carry driver mutations, even though they appear completely normal under the microscope. Furthermore the team found that many of these driver mutations appear to have arisen early in life, in many cases during childhood.

Publication: Genetics Medicine

Crosbie EJ, Ryan NAJ, Arends MJ, Bosse T, Burn J, Cornes JM, Crawford R, Eccles D, Frayling IM, Ghaem-Maghami S, Hampel H, Kauff ND, Kitchener HC, Kitson SJ, Manchanda R, McMahon RFT, Monahan KJ, Menon U, Møller P, Möslein G, Rosenthal A, Sasieni P, Seif MW, Singh N, Skarrott P, Snowsill TM, Steele R, Tischkowitz M;

28 March 2019

Publication: Intensive Care Medicine

French CE, Delon I, Dolling H, Sanchis-Juan A, Shamardina O, Mégy K, Abbs S, Austin T, Bowdin S, Branco RG, Firth H, , Rowitch DH, Raymond FL

07 March 2019

Publication: Nature Reviews

Monk D, Mackay DJG, Eggermann T, Maher ER, Riccio A.

15 January 2019

Publication: Genetics in Medicine

Lee A, Mavaddat N, Wilcox AN, Cunningham AP, Carver T, Hartley S, Babb de Villiers C, Izquierdo A, Simard J, Schmidt MK, Walter FM, Chatterjee N, Garcia-Closas M, Tischkowitz M, Pharoah P, Easton DF, Antoniou AC.

15 January 2019

Publication: Clinical Endicrinology

Wong MY, Andrews KA, Challis BG, Park SM, Acerini CL, Maher ER, et al.

27 December 2018

Publication: Hepatology

Goode EC, Clark AB, Mells GM, Srivastava B, Spiess K, Gelson WTH, et al.

19 December 2018

Publication: European Journal of Human Genetics

Nixon TRW, Richards A, Towns LK, Fuller G, Abbs S, Alexander P, et al.

19 December 2018

Publication: Clinical Gastroenterology Hepatology

Hegade VS, Mells GF, Fisher H, Kendrick S, DiBello J, Gilchrist K, et al.

14 December 2018

Publication: Genome Medicine

Sanchis-Juan A, Stephens J, French CE, Gleadall N, Megy K, Penkett C, et al.

7 December 2018

Publication: PLoS Genetics

Darlay R, Ayers KL, Mells GF, Hall LS, Liu JZ, Almarri MA, et al.

3 December 2018

Publication: Clinical Genetics

Yates TM, Langley CLM, Grozeva D, Raymond FL, Johnson DS.

24 October 2018

Publication: Brain

Baker K, Gordon SL, Melland H, Bumbak F, Scott DJ, Jiang TJ, et al.

13 August 2018

Publication: BMJ

R El-Damanawi, M Lee, T Harris, L Mader, S Bond, H Pavey, et al.

9 May 2018

Publication: Lancet

Schormair, B., Zhao, C., Bell, S. et al.

November 2017

Summary:

A new study into the genetics underlying restless legs syndrome has identified 13 previously-unknown genetic risk variants, while helping inform potential new treatment options for the condition.

Studies of families and twins have shown that there is a strong genetic component to the disorder and led to the discovery of six genetic variants that increased the risk of developing the condition.

Publication: Am J Hum Genet.

Lee JY, Hsu CK, Michael M, Nanda A, Liu L, McMillan JR, Pourreyron C, Takeichi T, Tolar J, Reid E, Hayday T, Blumen SC, Abu-Mouch S, Straussberg R, Basel-Vanagaite L, Barhum Y, Zouabi Y, Al-Ajmi H, Huang HY, Lin TC, Akiyama M, Lee JY, McLean WH, Simpson MA, Parsons M, McGrath JA.

2 February 2017

Publication: Am J Hum Genet

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium., Webster AR, Raymond FL

29 December 2016

Publication: Nat Genet

Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D; UK10K Consortium.; Deciphering Developmental Disorders Study.; NIHR BioResource Rare Diseases Consortium., Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA

19 December 2016

Publication: Hum Mutat

Shaikh SS, Chen YC, Halsall SA, Nahorski MS, Omoto K, Young GT, Phelan A, Woods CG.

26 November 2016

Publication: Nature

Sciacovelli M, Gonçalves E, Johnson TI, Zecchini VR, da Costa AS, Gaude E, Drubbel AV, Theobald SJ, Abbo SR, Tran MG, Rajeeve V, Cardaci S, Foster S, Yun H, Cutillas P, Warren A, Gnanapragasam V, Gottlieb E, Franze K, Huntly B, Maher ER, Maxwell PH, Saez-Rodriguez J, Frezza C.

31 August 2016

Publication: Nat Genet

Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J.

25 May 2015