Finding diagnostically useful patterns in quantitative phenotypic data

Aitken, S, Firth, HV, McRae, J et al. (280 more authors) (2019) Finding diagnostically useful patterns in quantitative phenotypic data. The American Journal of Human Genetics, 105 (5). pp. 933-946. ISSN 0002-9297

Abstract

Metadata

Authors/Creators:
  • Aitken, S
  • Firth, HV
  • McRae, J
  • Halachev, M
  • Kini, U
  • Parker, MJ
  • Lees, MM
  • Lachlan, K
  • Sarkar, A
  • Joss, S
  • Splitt, M
  • McKee, S
  • Németh, AH
  • Scott, RH
  • Wright, CF
  • Marsh, JA
  • Hurles, ME
  • FitzPatrick, DR
  • Fitzgerald, TW
  • Gerety, SS
  • Jones, WD
  • van Kogelenberg, M
  • King, DA
  • McRae, J
  • Morley, KI
  • Parthiban, V
  • Al-Turki, S
  • Ambridge, K
  • Barrett, DM
  • Bayzetinova, T
  • Clayton, S
  • Coomber, EL
  • Gribble, S
  • Jones, P
  • Krishnappa, N
  • Mason, LE
  • Middleton, A
  • Miller, R
  • Prigmore, E
  • Rajan, D
  • Sifrim, A
  • Tivey, AR
  • Ahmed, M
  • Akawi, N
  • Andrews, R
  • Anjum, U
  • Archer, H
  • Armstrong, R
  • Balasubramanian, M ORCID logo https://orcid.org/0000-0003-1488-3695
  • Banerjee, R
  • Barelle, D
  • Batstone, P
  • Baty, D
  • Bennett, C
  • Berg, J
  • Bernhard, B
  • Bevan, AP
  • Blair, E
  • Blyth, M
  • Bohanna, D
  • Bourdon, L
  • Bourn, D
  • Brady, A
  • Bragin, E
  • Brewer, C
  • Brueton, L
  • Brunstrom, K
  • Bumpstead, SJ
  • Bunyan, DJ
  • Burn, J
  • Burton, J
  • Canham, N
  • Castle, B
  • Chandler, K
  • Clasper, S
  • Clayton-Smith, J
  • Cole, T
  • Collins, A
  • Collinson, MN
  • Connell, F
  • Cooper, N
  • Cox, H
  • Cresswell, L
  • Cross, G
  • Crow, Y
  • D’Alessandro, PM
  • Dabir, T
  • Davidson, R
  • Davies, S
  • Dean, J
  • Deshpande, C
  • Devlin, G
  • Dixit, A
  • Dominiczak, A
  • Donnelly, C
  • Donnelly, D
  • Douglas, A
  • Duncan, A
  • Eason, J
  • Edkins, S
  • Ellard, S
  • Ellis, P
  • Elmslie, F
  • Evans, K
  • Everest, S
  • Fendick, T
  • Fisher, R
  • Flinter, F
  • Foulds, N
  • Fryer, A
  • Fu, B
  • Gardiner, C
  • Gaunt, L
  • Ghali, N
  • Gibbons, R
  • Pereira, SLG
  • Goodship, J
  • Goudie, D
  • Gray, E
  • Greene, P
  • Greenhalgh, L
  • Harrison, L
  • Hawkins, R
  • Hellens, S
  • Henderson, A
  • Hobson, E
  • Holden, S
  • Holder, S
  • Hollingsworth, G
  • Homfray, T
  • Humphreys, M
  • Hurst, J
  • Ingram, S
  • Irving, M
  • Jarvis, J
  • Jenkins, L
  • Johnson, D
  • Jones, D
  • Jones, E
  • Josifova, D
  • Joss, S
  • Kaemba, B
  • Kazembe, S
  • Kerr, B
  • Kini, U
  • Kinning, E
  • Kirby, G
  • Kirk, C
  • Kivuva, E
  • Kraus, A
  • Kumar, D
  • Lachlan, K
  • Lam, W
  • Lampe, A
  • Langman, C
  • Lees, M
  • Lim, D
  • Lowther, G
  • Lynch, SA
  • Magee, A
  • Maher, E
  • Mansour, S
  • Marks, K
  • Martin, K
  • Maye, U
  • McCann, E
  • McConnell, V
  • McEntagart, M
  • McGowan, R
  • McKay, K
  • McKee, S
  • McMullan, DJ
  • McNerlan, S
  • Mehta, S
  • Metcalfe, K
  • Miles, E
  • Mohammed, S
  • Montgomery, T
  • Moore, D
  • Morgan, S
  • Morris, A
  • Morton, J
  • Mugalaasi, H
  • Murday, V
  • Nevitt, L
  • Newbury-Ecob, R
  • Norman, A
  • O’Shea, R
  • Ogilvie, C
  • Park, S
  • Parker, MJ
  • Patel, C
  • Paterson, J
  • Payne, S
  • Phipps, J
  • Pilz, DT
  • Porteous, D
  • Pratt, N
  • Prescott, K
  • Price, S
  • Pridham, A
  • Proctor, A
  • Purnell, H
  • Ragge, N
  • Rankin, J
  • Raymond, L
  • Rice, D
  • Robert, L
  • Roberts, E
  • Roberts, G
  • Roberts, J
  • Roberts, P
  • Ross, A
  • Rosser, E
  • Saggar, A
  • Samant, S
  • Sandford, R
  • Sarkar, A
  • Schweiger, S
  • Scott, C
  • Scott, R
  • Selby, A
  • Seller, A
  • Sequeira, C
  • Shannon, N
  • Sharif, S
  • Shaw-Smith, C
  • Shearing, E
  • Shears, D
  • Simonic, I
  • Simpkin, D
  • Singzon, R
  • Skitt, Z
  • Smith, A
  • Smith, B
  • Smith, K
  • Smithson, S
  • Sneddon, L
  • Splitt, M
  • Squires, M
  • Stewart, F
  • Stewart, H
  • Suri, M
  • Sutton, V
  • Swaminathan, GJ
  • Sweeney, E
  • Tatton-Brown, K
  • Taylor, C
  • Taylor, R
  • Tein, M
  • Temple, IK
  • Thomson, J
  • Tolmie, J
  • Torokwa, A
  • Treacy, B
  • Turner, C
  • Turnpenny, P
  • Tysoe, C
  • Vandersteen, A
  • Vasudevan, P
  • Vogt, J
  • Wakeling, E
  • Walker, D
  • Waters, J
  • Weber, A
  • Wellesley, D
  • Whiteford, M
  • Widaa, S
  • Wilcox, S
  • Williams, D
  • Williams, N
  • Woods, G
  • Wragg, C
  • Wright, M
  • Yang, F
  • Yau, M
  • Carter, NP
  • Parker, M
  • Firth, HV
  • FitzPatrick, DR
  • Wright, CF
  • Barrett, JC
  • Hurles, ME
Copyright, Publisher and Additional Information: © 2019 The Authors. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Keywords: phenotype; genotype; developmental disease; tSNE; naive Bayes
Dates:
  • Accepted: 13 September 2019
  • Published (online): 10 October 2019
  • Published: 7 November 2019
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 07 Aug 2020 08:18
Last Modified: 07 Aug 2020 09:39
Status: Published
Publisher: Elsevier
Refereed: Yes
Identification Number: https://doi.org/10.1016/j.ajhg.2019.09.015
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