Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Autor: Haworth, S, Shapland, CY, Hayward, C, Prins, BP, Felix, JF, Medina-Gomez, C, Rivadeneira, F, Wang, C, Ahluwalia, TS, Vrijheid, M, Guxens, M, Sunyer, J, Tachmazidou, I, Walter, K, Iotchkova, V, Jackson, A, Cleal, L, Huffmann, J, Min, JL, Sass, L, Timmers, PRHJ, Al Turki, S, Anderson, CA, Anney, R, Antony, D, Artigas, MS, Ayub, M, Bala, S, Barrett, JC, Barroso, I, Beales, P, Bentham, J, Bhattacharya, S, Birney, E, Blackwood, D, Bobrow, M, Bochukova, E, Bolton, PF, Bounds, R, Boustred, C, Breen, G, Calissano, M, Carss, K, Charlton, R, Chatterjee, K, Chen, L, Ciampi, A, Cirak, S, Clapham, P, Clement, G, Coates, G, Cocca, M, Collier, DA, Cosgrove, C, Cox, T, Craddock, N, Crooks, L, Curran, S, Curtis, D, Daly, A, Danecek, P, Day, INM, Day-Williams, A, Dominiczak, A, Down, T, Du, Y, Dunham, I, Durbin, R, Edkins, S, Ekong, R, Ellis, P, Evans, DM, Farooqi, IS, Fitzpatrick, DR, Flicek, P, Floyd, J, Foley, AR, Franklin, CS, Futema, M, Gallagher, L, Gaunt, TR, Geihs, M, Geschwind, D, Greenwood, CMT, Griffin, H, Grozeva, D, Guo, X, Gurling, H, Hart, D, Hendricks, AE, Holmans, P, Howie, B, Huang, J, Huang, L, Hubbard, T, Humphries, SE, Hurles, ME, Hysi, P, Jackson, DK, Jamshidi, Y, Joyce, C, Karczewski, KJ, Kaye, J, Keane, T, Kemp, JP, Kennedy, K, Kent, A, Keogh, J, Khawaja, F, van Kogelenberg, M, Kolb-Kokocinski, A, Lachance, G, Langford, C, Lawson, D, Lee, I, Lek, M, Li, R, Li, Y, Liang, J, Lin, H, Liu, R, Lonnqvist, J, Lopes, LR, Lopes, M, MacArthur, DG, Mangino, M, Marchini, J, Marenne, G, Maslen, J, Mathieson, I, McCarthy, S, McGuffin, P, McIntosh, AM, McKechanie, AG, McQuillin, A, Memari, Y, Metrustry, S, Migone, N, Mitchison, HM, Moayyeri, A, Morris, A, Morris, J, Muddyman, D, Muntoni, F, Northstone, K, O'Donovan, MC, O'Rahilly, S, Onoufriadis, A, Oualkacha, K, Owen, MJ, Palotie, A, Panoutsopoulou, K, Parker, V, Parr, JR, Paternoster, L, Paunio, T, Payne, F, Payne, SJ, Perry, JRB, Pietilainen, O, Plagnol, V, Pollitt, RC, Porteous, DJ, Povey, S, Quail, MA, Quaye, L, Raymond, FL, Rehnstrom, K, Richards, JB, Ridout, CK, Ring, S, Ritchie, GRS, Roberts, N, Robinson, RL, Savage, DB, Scambler, P, Schiffels, S, Schmidts, M, Schoenmakers, N, Scott, RH, Semple, RK, Serra, E, Sharp, SI, Shaw, A, Shihab, HA, Shin, S-Y, Skuse, D, Small, KS, Smee, C, Smith, BH, Soranzo, N, Southam, L, Spasic-Boskovic, O, Spector, TD, St Clair, D, Stalker, J, Stevens, E, Sun, J, Surdulescu, G, Suvisaari, J, Syrris, P, Taylor, R, Tian, J, Tobin, MD, Valdes, AM, Vandersteen, AM, Vijayarangakannan, P, Visscher, PM, Wain, LV, Walters, JTR, Wang, G, Wang, J, Wang, Y, Ward, K, Wheeler, E, Whyte, T, Williams, HJ, Williamson, KA, Wilson, C, Wilson, SG, Wong, K, Xu, C, Yang, J, Zhang, F, Zhang, P, Zheng, H-F, Smith, GD, Fisher, SE, Wilson, JF, Cole, TJ, Fernandez-Orth, D, Bonnelykke, K, Bisgaard, H, Pennell, CE, Jaddoe, VWV, Dedoussis, G, Timpson, N, Zeggini, E, Vitart, V, St Pourcain, B, UK10K Consortium

Publikováno v: Nature Communications, 10:357. Nature Publishing Group

Cranial growth and development is a complex process which affects the closely related traits of head circumference (HC) and intracranial volume (ICV). The underlying genetic influences shaping these traits during the transition from childhood to adul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6520f507a01a43d0aeb27c426c74275b
https://orca.cardiff.ac.uk/id/eprint/128295/1/s41467-018-07863-x.pdf

A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates

Autor: George Dedoussis, Farmaki A-E., Jeremy Schwartzentruber, Gil McVean, Eleftheria Zeggini, Loukas Moutsianas, Dionysia K. Xifara, Emmanouil Tsafantakis, Ioanna Tachmazidou, Chrysoula Kiagiadaki, Laura M. Yerges-Armstrong, Yali Xue, Yuan Chen, Ritchie Grs., Nigel W. Rayner, Kalliope Panoutsopoulou, Chris Tyler-Smith, Toni I. Pollin, Angela Matchan, Konstantinos Hatzikotoulas, Lorraine Southam, Jeffery R. O'Connell

Publikováno v: Nature Communications

Isolated populations can empower the identification of rare variation associated with complex traits through next generation association studies, but the generalizability of such findings remains unknown. Here we genotype 1,267 individuals from a Gre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a71c0c0f23c04589ec9c24c26868d4a
https://doi.org/10.1038/ncomms3872

Comparative genomics of Fusarium species causing Fusarium ear rot of maize.

Autor: Hudson, Owen¹ (AUTHOR) owen.hudson@ufl.edu, Meinecke, Colton D.² (AUTHOR), Brawner, Jeremy T.^1,3 (AUTHOR)

Publikováno v: PLoS ONE. 10/18/2024, Vol. 19 Issue 10, p1-25. 25p.

A novel classification framework for genome-wide association study of whole brain MRI images using deep learning.

Autor: Yu, Shaojun¹ (AUTHOR), Wu, Junjie² (AUTHOR), Shao, Yumeng³ (AUTHOR), Qiu, Deqiang² (AUTHOR) zhaohui.qin@emory.edu, Qin, Zhaohui S.⁴ (AUTHOR) zhaohui.qin@emory.edu

Publikováno v: PLoS Computational Biology. 10/15/2024, Vol. 20 Issue 10, p1-24. 24p.

Identification of candidate causal variants and target genes at 41 breast cancer risk loci through differential allelic expression analysis.

Autor: Xavier, Joana M.^1,2 (AUTHOR) jgxavier@ualg.pt, Magno, Ramiro^1,3 (AUTHOR), Russell, Roslin^4,5 (AUTHOR), de Almeida, Bernardo P.^6,7,8 (AUTHOR), Jacinta-Fernandes, Ana⁶ (AUTHOR), Besouro-Duarte, André¹ (AUTHOR), Dunning, Mark^4,9 (AUTHOR), Samarajiwa, Shamith^10,11 (AUTHOR), O'Reilly, Martin⁴ (AUTHOR), Maia, António M.¹ (AUTHOR), Rocha, Cátia L.^6,12 (AUTHOR), Rosli, Nordiana^6,13,14 (AUTHOR), Ponder, Bruce A. J.⁴ (AUTHOR), Maia, Ana-Teresa^1,2,6 (AUTHOR) atmaia@ualg.pt

Publikováno v: Scientific Reports. 9/28/2024, Vol. 14 Issue 1, p1-19. 19p.