Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Autor: Huang, J, Howie, B, Mccarthy, S, Memari, Y, Walter, K, Min, Jl, Danecek, P, Malerba, Giovanni, Trabetti, Elisabetta, Zheng, Hf, Gambaro, G, Richards, Jb, Durbin, R, Timpson, Nj, Marchini, J, Soranzo, N, Al Turki, S, Amuzu, A, Anderson, Ca, Anney, R, Antony, D, Artigas, Ms, Ayub, M, Bala, S, Barrett, Jc, Barroso, I, Beales, P, Benn, M, Bentham, J, Bhattacharya, S, Birney, E, Blackwood, D, Bobrow, M, Bochukova, E, Bolton, Pf, Bounds, R, Boustred, C, Breen, G, Calissano, M, Carss, K, Casas, Jp, Chambers, Jc, 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, Day, In, Day Williams, A, Dedoussis, G, Down, T, Du, Y, van Duijn, Cm, Dunham, I, Edkins, S, Ekong, R, Ellis, P, Evans, Dm, Farooqi, Is, Fitzpatrick, Dr, Flicek, P, Floyd, J, Foley, Ar, Franklin, Cs, Futema, M, Gallagher, L, Gasparini, P, Gaunt, Tr, Geihs, M, Geschwind, D, Greenwood, C, Griffin, H, Grozeva, D, Guo, X, Gurling, H, Hart, D, Hendricks, Ae, Holmans, P, Huang, L, Hubbard, T, Humphries, Se, Hurles, Me, Hysi, P, Iotchkova, V, Isaacs, A, Jackson, Dk, Jamshidi, Y, Johnson, J, Joyce, C, Karczewski, Kj, Kaye, J, Keane, T, Kemp, Jp, Kennedy, K, Kent, A, Keogh, J, Khawaja, F, Kleber, Me, van Kogelenberg, M, Kolb Kokocinski, A, Kooner, Js, Lachance, G, Langenberg, C, Langford, C, Lawson, D, Lee, I, van Leeuwen, Em, Lek, M, Li, R, Li, Y, Liang, J, Lin, H, Liu, R, Lönnqvist, J, Lopes, Lr, Lopes, M, Luan, J, Macarthur, Dg, Mangino, M, Marenne, G, März, W, Maslen, J, Matchan, A, Mathieson, I, Mcguffin, P, Mcintosh, Am, Mckechanie, Ag, Mcquillin, A, Metrustry, S, Migone, N, Mitchison, Hm, Moayyeri, A, Morris, J, Morris, R, Muddyman, D, Muntoni, F, Nordestgaard, Bg, 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, Jr, Pietilainen, O, Plagnol, V, Pollitt, Rc, Povey, S, Quail, Ma, Quaye, L, Raymond, L, Rehnström, K, Ridout, Ck, Ring, S, Ritchie, Gr, Roberts, N, Robinson, Rl, Savage, Db, Scambler, P, Schiffels, S, Schmidts, M, Schoenmakers, N, Scott, Rh, Scott, Ra, Semple, Rk, Serra, E, Sharp, Si, Shaw, A, Shihab, Ha, Shin, Sy, Skuse, D, Small, Ks, Smee, C, Smith, Gd, Southam, L, Spasic Boskovic, O, Spector, Td, St Clair, D, St Pourcain, B, Stalker, J, Stevens, E, Sun, J, Surdulescu, G, Suvisaari, J, Syrris, P, Tachmazidou, I, Taylor, R, Tian, J, Tobin, Md, Toniolo, D, Traglia, M, Tybjaerg Hansen, A, Valdes, Am, Vandersteen, Am, Varbo, A, Vijayarangakannan, P, Visscher, Pm, Wain, Lv, Walters, Jt, Wang, G, Wang, J, Wang, Y, Ward, K, Wheeler, E, Whincup, P, Whyte, T, Williams, Hj, Williamson, Ka, Wilson, C, Wilson, Sg, Wong, K, Xu, C, Yang, J, Zaza, Gianluigi, Zeggini, E, Zhang, F, Zhang, P, Zhang, W.

Publikováno v: Nature Communications, 6, 8111
Nature Communications, 6, pp. 8111
Nature Communications
Huang, J, Howie, B, McCarthy, S, Memari, Y, Walter, K, Min, J L, Danecek, P, Malerba, G, Trabetti, E, Zheng, H-F, Gambaro, G, Richards, J B, Durbin, R, Timpson, N J & Marchini, J & Soranzo, N 2015, ' Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel ', Nature Communications, vol. 6, pp. 8111 . https://doi.org/10.1038/ncomms9111
Huang, J, Howie, B, Mccarthy, S, Memari, Y, Walter, K, Min, J L, Danecek, P, Malerba, G, Trabetti, E, Zheng, H, Al Turki, S, Amuzu, A, Anderson, C A, Anney, R, Antony, D, Artigas, M S, Ayub, M, Bala, S, Barrett, J C, Barroso, I, Beales, P, Benn, M, Bentham, J, Bhattacharya, S, Birney, E, Blackwood, D, Bobrow, M, Bochukova, E, Bolton, P F, Bounds, R, Boustred, C, Breen, G, Calissano, M, Carss, K, Pablo Casas, J, Chambers, J C, Charlton, R, Chatterjee, K, Chen, L, Ciampi, A, Cirak, S, Clapham, P, Clement, G, Coates, G, Cocca, M, Collier, D A, Cosgrove, C, Cox, T, Craddock, N, Crooks, L, Curran, S, Curtis, D, Daly, A, Day, I N M, Day-williams, A, Dedoussis, G, Down, T, Du, Y, Van Duijn, C M, Dunham, I, Edkins, S, Ekong, R, Ellis, P, Evans, D M, Farooqi, I S, Fitzpatrick, D R, Flicek, P, Floyd, J, Foley, A R, Franklin, C S, Futema, M, Gallagher, L, Gasparini, P, Gaunt, T R, Geihs, M, Geschwind, D, Greenwood, C, Griffin, H, Grozeva, D, Guo, X, Guo, X, Gurling, H, Hart, D, Hendricks, A E, Holmans, P, Huang, L, Hubbard, T, Humphries, S E, Hurles, M E, Hysi, P, Iotchkova, V, Isaacs, A, Jackson, D K, Jamshidi, Y, Johnson, J, Joyce, C, Karczewski, K J, Kaye, J, Keane, T, Kemp, J P, Kennedy, K, Kent, A, Keogh, J, Khawaja, F, Kleber, M E, Van Kogelenberg, M, Kolb-kokocinski, A, Kooner, J S, Lachance, G, Langenberg, C, Langford, C, Lawson, D, Lee, I, Van Leeuwen, E M, Lek, M, Li, R, Li, Y, Liang, J, Lin, H, Liu, R, Lönnqvist, J, Lopes, L R, Lopes, M, Luan, J, Macarthur, D G, Mangino, M, Marenne, G, März, W, Maslen, J, Matchan, A, Mathieson, I, Mcguffin, P, Mcintosh, A M, Mckechanie, A G, Mcquillin, A, Metrustry, S, Migone, N, Mitchison, H M, Moayyeri, A, Morris, J, Morris, R, Muddyman, D, Muntoni, F, Nordestgaard, B, Northstone, K, O'donovan, M C, O'rahilly, S, Onoufriadis, A, Oualkacha, K, Owen, M J, Palotie, A, Panoutsopoulou, K, Parker, V, Parr, J R, Paternoster, L, Paunio, T, Payne, F, Payne, S J, Perry, J R B, Pietilainen, O, Plagnol, V, Pollitt, R C, Povey, S, Quail, M A, Quaye, L, Raymond, L, Rehnström, K, Ridout, C K, Ring, S, Ritchie, G R S, Roberts, N, Robinson, R L, Savage, D B, Scambler, P, Schiffels, S, Schmidts, M, Schoenmakers, N, Scott, R H, Scott, R A, Semple, R K, Serra, E, Sharp, S I, Shaw, A, Shihab, H A, Shin, S, Skuse, D, Small, K S, Smee, C, Smith, G D, Southam, L, Spasic-boskovic, O, Spector, T D, St Clair, D, St Pourcain, B, Stalker, J, Stevens, E, Sun, J, Surdulescu, G, Suvisaari, J, Syrris, P, Tachmazidou, I, Taylor, R, Tian, J, Tobin, M D, Toniolo, D, Traglia, M, Tybjærg-Hansen, A, Valdes, A M, Vandersteen, A M, Varbo, A, Vijayarangakannan, P, Visscher, P M, Wain, L V, Walters, J T R, Wang, G, Wang, J, Wang, Y, Ward, K, Wheeler, E, Whincup, P, Whyte, T, Williams, H J, Williamson, K A, Wilson, C, Wilson, S G, Wong, K, Xu, C, Yang, J, Zaza, G, Zeggini, E, Zhang, F, Zhang, P, Zhang, W, Gambaro, G, Richards, J B, Durbin, R, Timpson, N J, Marchini, J & Soranzo, N 2015, ' Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel ', Nature Communications, vol. 6, 8111 . https://doi.org/10.1038/ncomms9111

Imputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the single-nucleotide polymorphism (SNP) content of genome-wide arrays. The UK10K Cohorts project has generated a data

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f95b9da2183aba8a33d77fef6e097ebb
http://hdl.handle.net/2066/153109

Psychosis in the British Army: a 2-year follow-up study.

Autor: Turner MA (AUTHOR), Finch PJC (AUTHOR), McKechanie AG (AUTHOR), Kiernan MD (AUTHOR), Hawksley OJ (AUTHOR), Wadhwani S (AUTHOR), McManus FB (AUTHOR), Neal LA (AUTHOR), Turner, Mark A¹ (AUTHOR), Finch, Peter J C (AUTHOR), McKechanie, Andrew G (AUTHOR), Kiernan, Mathew D (AUTHOR), Hawksley, Oliver J (AUTHOR), Wadhwani, Sharan (AUTHOR), McManus, Frank B (AUTHOR), Neal, Leigh A (AUTHOR)

Publikováno v: Military Medicine. Dec2006, Vol. 171 Issue 12, p1215-1219. 5p.

The Behavioral Profile of SYNGAP1-Related Intellectual Disability.

Autor: Wright D; Damien Wright, Aisling Kenny, Lindsay A. M. Mizen, Andrew G. McKechanie, and Andrew C. Stanfield, Patrick Wild Centre, Division of Psychiatry, Kennedy Tower, Royal Edinburgh Hospital, University of Edinburgh; and Simons Initiative for the Developing Brain, University of Edinburgh., Kenny A; Damien Wright, Aisling Kenny, Lindsay A. M. Mizen, Andrew G. McKechanie, and Andrew C. Stanfield, Patrick Wild Centre, Division of Psychiatry, Kennedy Tower, Royal Edinburgh Hospital, University of Edinburgh; and Simons Initiative for the Developing Brain, University of Edinburgh., Mizen LAM; Damien Wright, Aisling Kenny, Lindsay A. M. Mizen, Andrew G. McKechanie, and Andrew C. Stanfield, Patrick Wild Centre, Division of Psychiatry, Kennedy Tower, Royal Edinburgh Hospital, University of Edinburgh; and Simons Initiative for the Developing Brain, University of Edinburgh., McKechanie AG; Damien Wright, Aisling Kenny, Lindsay A. M. Mizen, Andrew G. McKechanie, and Andrew C. Stanfield, Patrick Wild Centre, Division of Psychiatry, Kennedy Tower, Royal Edinburgh Hospital, University of Edinburgh; and Simons Initiative for the Developing Brain, University of Edinburgh., Stanfield AC; Damien Wright, Aisling Kenny, Lindsay A. M. Mizen, Andrew G. McKechanie, and Andrew C. Stanfield, Patrick Wild Centre, Division of Psychiatry, Kennedy Tower, Royal Edinburgh Hospital, University of Edinburgh; and Simons Initiative for the Developing Brain, University of Edinburgh.

Publikováno v: American journal on intellectual and developmental disabilities [Am J Intellect Dev Disabil] 2024 May 01; Vol. 129 (3), pp. 199-214.

Lived experiences of depression in autistic children and adolescents: A qualitative study on child and parent perspectives.

Autor: Rhodes SM; Child Life and Health, University of Edinburgh, UK; Centre for Clinical Brain Sciences, University of Edinburgh, UK. Electronic address: sinead.rhodes@ed.ac.uk., Eaton CB; Division of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Wales, UK., Oldridge J; Clinical Psychology, School of Health and Wellbeing, University of Glasgow, UK., Rodgers J; Population Health Sciences Institute, Faculty of Medical Sciences, Newcastle University, UK., Chan S; School of Psychology and Clinical Language Sciences, University of Reading, UK., Skouta E; NHS CAMHS South London and Maudsley, Snowsfield Adolescent Unit, Maudsley Hospital, London, UK., McKechanie AG; The Patrick Wild Centre, University of Edinburgh, UK., Mackie L; NHS Paediatric Speech and Language Therapy Service, Lothian, UK., Stewart TM; Moray House School of Education and Sport, University of Edinburgh, UK.

Publikováno v: Research in developmental disabilities [Res Dev Disabil] 2023 Jul; Vol. 138, pp. 104516. Date of Electronic Publication: 2023 May 02.

A functional MRI facial emotion-processing study of autism in individuals with special educational needs.

Autor: McKechanie AG; Patrick Wild Centre, University of Edinburgh, Edinburgh, United Kingdom; Division of Psychiatry, University of Edinburgh, Edinburgh, United Kingdom. Electronic address: andrew.mckechanie@ed.ac.uk., Lawrie SM; Patrick Wild Centre, University of Edinburgh, Edinburgh, United Kingdom; Division of Psychiatry, University of Edinburgh, Edinburgh, United Kingdom., Whalley HC; Division of Psychiatry, University of Edinburgh, Edinburgh, United Kingdom., Stanfield AC; Patrick Wild Centre, University of Edinburgh, Edinburgh, United Kingdom; Division of Psychiatry, University of Edinburgh, Edinburgh, United Kingdom.

Publikováno v: Psychiatry research. Neuroimaging [Psychiatry Res Neuroimaging] 2022 Mar; Vol. 320, pp. 111426. Date of Electronic Publication: 2021 Dec 08.