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The American Journal of Human Genetics, ISSN 0002-9297, 09/2014, Volume 95, Issue 3, pp. 257 - 274
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 12/2018, Volume 27, Issue 24, pp. 4263 - 4272
Abstract Congenital myopathies are typically characterised by early onset hypotonia, weakness and hallmark features on biopsy. Despite the rapid pace of gene... 
ESSENTIAL LIGHT-CHAIN | FIBER-TYPE DISPROPORTION | OVEREXPRESSION | HYPERTROPHY | MYOSIN | GENETICS | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISEASE | GENETICS & HEREDITY | COMMON-CAUSE
Journal Article
by Taylor, Peter N and Porcu, Eleonora and Chew, Shelby and Campbell, Purdey J and Traglia, Michela and Brown, Suzanne J and Mullin, Benjamin H and Shihab, Hashem A and Min, Josine and Walter, Klaudia and Memari, Yasin and Huang, Jie and Barnes, Michael R and Beilby, John P and Charoen, Pimphen and Danecek, Petr and Dudbridge, Frank and Forgetta, Vincenzo and Greenwood, Celia and Grundberg, Elin and Johnson, Andrew D and Hui, Jennie and Lim, Ee M and McCarthy, Shane and Muddyman, Dawn and Panicker, Vijay and Perry, John R. B and Bell, Jordana T and Yuan, Wei and Relton, Caroline and Gaunt, Tom and Schlessinger, David and Abecasis, Goncalo and Cucca, Francesco and Surdulescu, Gabriela L and Woltersdorf, Wolfram and Zeggini, Eleftheria and Zheng, Hou-Feng and Toniolo, Daniela and Dayan, Colin M and Naitza, Silvia and Walsh, John P and Spector, Tim and Smith, George Davey and Durbin, Richard and Richards, J. Brent and Sanna, Serena and Soranzo, Nicole and Timpson, Nicholas J and Wilson, Scott G and Turki, Saeed Al and Anderson, Carl and Anney, Richard and Antony, Dinu and Artigas, Maria Soler and Ayub, Muhammad and Balasubramaniam, Senduran and Barrett, Jeffrey C and Barroso, Inês and Beales, Phil and Bentham, Jamie and Bhattacharya, Shoumo and Birney, Ewan and Blackwood, Douglas and Bobrow, Martin and Bochukova, Elena and Bolton, Patrick and Bounds, Rebecca and Boustred, Chris and Breen, Gerome and Calissano, Mattia and Carss, Keren and Chatterjee, Krishna and Chen, Lu and Ciampi, Antonio and Cirak, Sebhattin and Clapham, Peter and Clement, Gail and Coates, Guy and Collier, David and Cosgrove, Catherine and Cox, Tony and Craddock, Nick and Crooks, Lucy and Curran, Sarah and Curtis, David and Daly, Allan and Day-Williams, Aaron and Day, Ian N. M and Down, Thomas and Du, Yuanping and Dunham, Ian and Edkins, Sarah and Ellis, Peter and Evans, David and Faroogi, Sadaf and Fatemifar, Ghazaleh and Fitzpatrick, David R and Flicek, Paul and Flyod, James and ... and UK10K Consortium and UK0K Consortium and The UK10K Consortium
Nature Communications, ISSN 2041-1723, 2015, Volume 6, Issue 1, p. 5681
Journal Article
by Tachmazidou, I and Süveges, D and Min, JL and Ritchie, GRS and Steinberg, J and Walter, K and Iotchkova, V and Schwartzentruber, J and Huang, J and Memari, Y and McCarthy, Shane Alan and Crawford, AA and Bombieri, C and Cocca, M and Farmaki, A-E and Gaunt, TR and Jousilahti, P and Kooijman, MN and Lehne, B and Malerba, G and Männistö, S and Matchan, A and Medina-Gomez, C and Metrustry, SJ and Nag, A and Ntalla, I and Paternoster, L and Rayner, NW and Sala, C and Scott, WR and Shihab, HA and Southam, L and St Pourcain, B and Traglia, M and Trajanoska, K and Zaza, G and Zhang, W and Artigas, MS and Bansal, Narinder and Benn, M and Chen, Z and Danecek, P and Lin, W-Y and Locke, A and Luan, Jian'an and Manning, AK and Mulas, A and Sidore, C and Tybjaerg-Hansen, A and Varbo, A and Zoledziewska, M and Finan, C and Hatzikotoulas, K and Hendricks, AE and Kemp, JP and Moayyeri, A and Panoutsopoulou, K and Szpak, M and Wilson, SG and Boehnke, M and Cucca, F and Di Angelantonio, Emanuele and Langenberg, Claudia and Lindgren, C and McCarthy, MI and Morris, AP and Nordestgaard, BG and Scott, RA and Tobin, MD and Wareham, Nicholas John and SpiroMeta Consortium and GoT2D Consortium and Burton, P and Chambers, JC and Smith, GD and Dedoussis, G and Felix, JF and Franco, OH and Gambaro, G and Gasparini, P and Hammond, CJ and Hofman, A and Jaddoe, VWV and Kleber, M and Kooner, JS and Perola, M and Relton, C and Ring, SM and Rivadeneira, F and Salomaa, V and Spector, TD and Stegle, O and Toniolo, D and Uitterlinden, AG and arcOGEN Consortium and Understanding Society Scientific Group and UK10K Consortium and Barroso, Ines and Greenwood, CMT and Perry, John Richard and ...
ISSN 0002-9297, 2017
Deep sequence-based imputation can enhance the discovery power of genome-wide association studies by assessing previously unexplored variation across the... 
imputation | UK10K | anthropometry | next-generation whole-genome sequencing | DXA traits | UK Biobank | genetic association study
Journal Article
Nature Communications, ISSN 2041-1723, 2015, Volume 6, p. 8111
Imputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the single-nucleotide... 
Haplotypes | Humans | Gene Frequency | Middle Aged | Genotype | European Continental Ancestry Group | United Kingdom | Models, Statistical | Genetic Variation | Young Adult | Alleles | Adolescent | Aged, 80 and over | Adult | Italy | Polymorphism, Single Nucleotide | Models, Genetic | Aged | Genome, Human | UK10K Consortium
Journal Article
by Haworth, Simon and Shapland, Chin Yang and Hayward, Caroline and Prins, Bram P and Felix, Janine F and Medina-Gomez, Carolina and Rivadeneira, Fernando and Wang, Carol and Ahluwalia, Tarunveer S and Vrijheid, Martine and Guxens, Mònica and Sunyer, Jordi and Tachmazidou, Ioanna and Walter, Klaudia and Iotchkova, Valentina and Jackson, Andrew and Cleal, Louise and Huffmann, Jennifer and Min, Josine L and Sass, Lærke and Timmers, Paul R. H. J and Turki, Saeed Al and Anderson, Carl A and Anney, Richard and Antony, Dinu and Artigas, María Soler and Ayub, Muhammad and Bala, Senduran and Barrett, Jeffrey C and Barroso, Inês and Beales, Phil and Bentham, Jamie and Bhattacharya, Shoumo and Birney, Ewan and Blackwood, Douglas and Bobrow, Martin and Bochukova, Elena and Bolton, Patrick F and Bounds, Rebecca and Boustred, Chris and Breen, Gerome and Calissano, Mattia and Carss, Keren and Charlton, Ruth and Chatterjee, Krishna and Chen, Lu and Ciampi, Antonio and Cirak, Sebahattin and Clapham, Peter and Clement, Gail and Coates, Guy and Cocca, Massimiliano and Collier, David A and Cosgrove, Catherine and Cox, Tony and Craddock, Nick and Crooks, Lucy and Curran, Sarah and Curtis, David and Daly, Allan and Danecek, Petr and Day, Ian N. M and Day-Williams, Aaron and Dominiczak, Anna and Down, Thomas and Du, Yuanping and Dunham, Ian and Durbin, Richard and Edkins, Sarah and Ekong, Rosemary and Ellis, Peter and Evans, David M and Farooqi, I. Sadaf and Fitzpatrick, David R and Flicek, Paul and Floyd, James and Foley, A. Reghan and Franklin, Christopher S and Futema, Marta and Gallagher, Louise and Gaunt, Tom R and Geihs, Matthias and Geschwind, Daniel and Greenwood, Celia M. T and Griffin, Heather and Grozeva, Detelina and Guo, Xiaosen and Guo, Xueqin and Gurling, Hugh and Hart, Deborah and Hendricks, Audrey E and Holmans, Peter and Howie, Bryan and Huang, Jie and Huang, Liren and Hubbard, Tim and Humphries, Steve E and Hurles, Matthew E and Hysi, Pirro and Jackson, David K and ... and UK10K Consortium and UK10K consortium
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 357 - 16
Journal Article
by Sifrim, Alejandro and Hitz, Marc-Phillip and Wilsdon, Anna and Breckpot, Jeroen and Turki, Saeed H Al and Thienpont, Bernard and McRae, Jeremy and Fitzgerald, Tomas W and Singh, Tarjinder and Swaminathan, Ganesh Jawahar and Prigmore, Elena and Rajan, Diana and Abdul-Khaliq, Hashim and Banka, Siddharth and Bauer, Ulrike M M and Bentham, Jamie and Berger, Felix and Bhattacharya, Shoumo and Bu'Lock, Frances and Canham, Natalie and Colgiu, Irina-Gabriela and Cosgrove, Catherine and Cox, Helen and Daehnert, Ingo and Daly, Allan and Danesh, John and Fryer, Alan and Gewillig, Marc and Hobson, Emma and Hoff, Kirstin and Homfray, Tessa and Kahlert, Anne-Karin and Ketley, Ami and Kramer, Hans-Heiner and Lachlan, Katherine and Lampe, Anne Katrin and Louw, Jacoba J and Manickara, Ashok Kumar and Manase, Dorin and McCarthy, Karen P and Metcalfe, Kay and Moore, Carmel and Newbury-Ecob, Ruth and Omer, Seham Osman and Ouwehand, Willem H and Park, Soo-Mi and Parker, Michael J and Pickardt, Thomas and Pollard, Martin O and Robert, Leema and Roberts, David J and Sambrook, Jennifer and Setchfield, Kerry and Stiller, Brigitte and Thornborough, Chris and Toka, Okan and Watkins, Hugh and Williams, Denise and Wright, Michael and Mital, Seema and Daubeney, Piers E F and Keavney, Bernard and Goodship, Judith and Abu-Sulaiman, Riyadh Mahdi and Klaassen, Sabine and Wright, Caroline F and Firth, Helen V and Barrett, Jeffrey C and Devriendt, Koenraad and FitzPatrick, David R and Brook, J David and Hurles, Matthew E and INTERVAL Study and Deciphering Developmental Disorders Study and UK10K Consortium
Nature genetics, ISSN 1061-4036, 09/2016, Volume 48, Issue 9, p. 1060
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2016, Volume 48, Issue 11, pp. 1303 - 1312
Large-scale whole-genome sequence data sets offer novel opportunities to identify genetic variation underlying human traits. Here we apply genotype imputation... 
Journal Article