1Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells
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
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.View publication
2Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood
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
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.View publication
3The NHS England 100,000 Genomes Project – Feasibility and utility of centralised genome sequencing for children with cancer
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
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.View publication
4A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage
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
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.View publication
5Fetal hydrops and the Incremental yield of Next generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis
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
Use of prenatal next generation sequencing in both isolated and non‐isolated NIHF should be considered in developing clinical pathways.View publication
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
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.View publication
7The Manchester International Consensus Group recommendationfor the management of gynecological cancers in Lynch syndrome
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 2019View publication
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 2019View publication
Publication: Nature Reviews
Monk D, Mackay DJG, Eggermann T, Maher ER, Riccio A.
15 January 2019View publication
10BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors
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 2019View publication
11Clinical Practice Guidance: Surveillance for phaeochromocytoma and paraganglioma in paediatric succinate dehydrogenase gene mutation carriers
Publication: Clinical Endicrinology
Wong MY, Andrews KA, Challis BG, Park SM, Acerini CL, Maher ER, et al.
27 December 2018View publication
12Factors Associated With Outcomes of Patients With Primary Sclerosing Cholangitis and Development and Validation of a Risk Scoring System
Goode EC, Clark AB, Mells GM, Srivastava B, Spiess K, Gelson WTH, et al.
19 December 2018View publication
13Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia
Publication: European Journal of Human Genetics
Nixon TRW, Richards A, Towns LK, Fuller G, Abbs S, Alexander P, et al.
19 December 2018View publication
14Pruritus is Common and Under-treated in Patients with Primary Biliary Cholangitis in the United Kingdom
Publication: Clinical Gastroenterology Hepatology
Hegade VS, Mells GF, Fisher H, Kendrick S, DiBello J, Gilchrist K, et al.
14 December 2018View publication
15Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing
Publication: Genome Medicine
Sanchis-Juan A, Stephens J, French CE, Gleadall N, Megy K, Penkett C, et al.
7 December 2018View publication
16Amino acid residues in five separate HLA genes can explain most of the known associations between the MHC and primary biliary cholangitis
Publication: PLoS Genetics
Darlay R, Ayers KL, Mells GF, Hall LS, Liu JZ, Almarri MA, et al.
3 December 2018View publication
Publication: Clinical Genetics
Yates TM, Langley CLM, Grozeva D, Raymond FL, Johnson DS.
24 October 2018View publication
Baker K, Gordon SL, Melland H, Bumbak F, Scott DJ, Jiang TJ, et al.
13 August 2018View publication
19A Randomised Controlled Trial of High versus Ad Libitum Water Intake in Patients with Autosomal Dominant Polycystic Kidney Disease: Rationale and Design of the DRINK Feasibility Trial
R El-Damanawi, M Lee, T Harris, L Mader, S Bond, H Pavey, et al.
9 May 2018View publication
20Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis.
Schormair, B., Zhao, C., Bell, S. et al.
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.View publication
21Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.
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 2017View publication
22Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
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 2016View publication
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 2016View publication
24A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV).
Publication: Hum Mutat
Shaikh SS, Chen YC, Halsall SA, Nahorski MS, Omoto K, Young GT, Phelan A, Woods CG.
26 November 2016View publication
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 2016View publication
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 2015View publication