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SCIENCE, ISSN 0036-8075, 04/2012, Volume 336, Issue 6079, pp. 296 - 296
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 10/2010, Volume 19, Issue 2, pp. R125 - R130
Genetic variants predicted to seriously disrupt the function of human protein-coding genes so-called loss-of-function (LOF) variants-have traditionally been... 
DISRUPTION | EVOLUTION | POSITIVE SELECTION | METABOLISM | ACTN3 | COPY-NUMBER | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | GENE-EXPRESSION | POLYMORPHISM | CASPASE-12 | Humans | Genetic Variation - genetics | Genome, Human - genetics
Journal Article
by White, Gemma and White, Jacqueline K and Gerdin, Anna-Karin and Karp, Natasha A and Ryder, Ed and Buljan, Marija and Bussell, James N and Salisbury, Jennifer and Clare, Simon and Ingham, Neil J and Podrini, Christine and Houghton, Richard and Estabel, Jeanne and Bottomley, Joanna R and Melvin, David G and Sunter, David and Adams, David J and Adams, Niels C and Baker, Lauren and Barnes, Caroline and Beveridge, Ryan and Cambridge, Emma and Carragher, Damian and Chana, Prabhjoat and Clarke, Kay and Hooks, Yvette and Igosheva, Natalia and Ismail, Ozama and Jackson, Hannah and Kane, Leanne and Lacey, Rosalind and Lafont, David Tino and Lucas, Mark and Maguire, Simon and McGill, Katherine and McIntyre, Rebecca E and Messager, Sophie and Mottram, Lynda and Mulderrig, Lee and Pearson, Laila and Pearson, Selina and Protheroe, Hayley J and Roberson, Laura-Anne and Salsbury, Grace and Sanderson, Mark and Sanger, Daniel and Shannon, Carl and Thompson, Paul C and Tuck, Elizabeth and Vancollie, Valerie E and Brackenbury, Lisa and Bushell, Wendy and Cook, Ross and Dalvi, Priya and Gleeson, Diane and Habib, Bishoy and Hardy, Matt and Liakath-Ali, Kifayathullah and Miklejewska, Evelina and Price, Stacey and Sethi, Debarati and Trenchard, Elizabeth and von Schiller, Dominique and Vyas, Sapna and West, Anthony P and Woodward, John and Wynn, Elizabeth and Evans, Arthur and Gannon, David and Griffiths, Mark and Holroyd, Simon and Iyer, Vivek and Kipp, Christian and Lewis, Morag and Li, Wei and Oakley, Darren and Richardson, David and Smedley, Damian and Agu, Chukwuma and Bryant, Jackie and Delaney, Liz and Gueorguieva, Nadia I and Tharagonnet, Helen and Townsend, Anne J and Biggs, Daniel and Brown, Terry and Brown, Ellen and Collinson, Adam and Dumeau, Charles-Etienne and Grau, Evelyn and Harrison, James and Harrison, Sarah and Ingle, Catherine E and Kundi, Helen and Madich, Alla and Mayhew, Danielle and Metcalf, Tom and Newman, Stuart and Pass, Johanna and Reynolds, Helen and ... and Sanger Inst Mouse Genetics Project and Sanger Institute Mouse Genetics Project
Cell, ISSN 0092-8674, 07/2013, Volume 154, Issue 2, pp. 452 - 464
Journal Article
by Shen, JK and Tryon, DN and Myklak, KC and Alsyouf, MM and Peplinski, BS and Conceicao, C and Ruckle, HC and Baldwin, DD and Liu, LZQ and Johnson, LJ and Davenport, DL and Venkatesh, R and Soria, F and Morcillo, E and De la Cruz, J and Serrano, A and Rioja, J and Budia, A and Fernandez, T and Fernandez, I and Bachiller, J and Sanchez, FM and Lee, BR and Callaghan, C and Mandava, SH and Peralta, D and Bouljihad, M and Dash, SD and Liu, JL and Tarr, MT and Maddox, MM and Lai, WL and Jordão, RJ and Bandeira, RAST and Leite, KR and Miranda, EP and Srougi, M Miguel and Tefik, T and Seitz, C and Brehmer, M and Osther, P and Giusti, G and Rassweiler, JR and Grasso, MG and Preminger, GP and Pearle, MP and Traxer, OT and Lee, JW and Lee, MY and Oh, TH and Kwon, WA and Park, SC and Jeong, H J and Seo, I Y and Patankar, SBP and Smith, YS and Yallappa, S and Polson, P and Subramonian, K and Fukai, YF and Ishii, T and Igarashi, T and Lamb, BW and Lettin, J and Cook, J and Malik, S and Graham, S and Elhage, O and Sakellariou, C and Smith, Ra and Galustian, C and Dasgupta, P and Olweny, E and Zhang, Z and Haimovich, B and Kwon, YS and Lu, T and Fyfe-Kirschner, BFK and Kim, DSK and Choi, T and Yoo, KH and Jeon, S and Shahrour, K and Keck, R and Jankun, J and Ball, MW and Readal, NT and Gorin, MA and Pierorazio, PM and Allaf, ME and Kallidonis, P and Vasilas, M and Panagopoulos, VP and Amanatides, LA and Kyriazis, IK and Vrettos, T and Fligkou, F and Liatsikos, E and Lovegrove, CE and Novara, G and ...
Journal of Endourology, ISSN 0892-7790, 10/2015, Volume 29, Issue S1, pp. P1 - A457
Journal Article
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 01/2017, Volume 45, Issue 1, pp. D840 - D845
Worldwide, hundreds of thousands of humans have had their genomes or exomes sequenced, and access to the resulting data sets can provide valuable information... 
FUNCTIONAL PREDICTIONS | VARIANTS | DBNSFP | BIOCHEMISTRY & MOLECULAR BIOLOGY | Exome | User-Computer Interface | Computational Biology - methods | Humans | Databases, Genetic | Software | Genome-Wide Association Study - methods | Genomics - methods | Web Browser | Database Issue
Journal Article
Journal Article
Genome Biology, ISSN 1474-7596, 01/2017, Volume 18, Issue 1, p. 20
We summarize the remarkable progress that has been made in the identification and functional characterization of DNA sequence variants associated with disease. 
DNA METHYLATION | GENE | RARE | MORBID GENOME | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | REGULATORY NETWORK | DISORDERS | MUTATIONS | INSIGHTS | Genetic Variation | Genetic Predisposition to Disease | Genomics - methods | Humans | Nucleotide sequence | Disease | Genomics | Genes | DNA methylation | Genomes | Biology | Genetic engineering | Mutation | Deoxyribonucleic acid--DNA | Data bases
Journal Article
Nature, ISSN 0028-0836, 2016, Volume 536, Issue 7616, pp. 285 - 291
Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe... 
HUMAN-DISEASE | EVOLUTION | MULTIDISCIPLINARY SCIENCES | MUTATION | GUIDELINES | FRAMEWORK | SEQUENCE VARIANTS | NETWORKS | DISCOVERY | HUMAN-POPULATION HISTORY | Genetic aspects | Research | Man | Human beings | Genetic variation | Analysis | Datasets | Proteins | Disease | Genes | Principal components analysis | Genetics | Genomes | Data bases
Journal Article
by Ardlie, Kristin G and DeLuca, David S and Segrè, Ayellet V and Sullivan, Timothy J and Young, Taylor R and Gelfand, Ellen T and Trowbridge, Casandra A and Maller, Julian B and Tukiainen, Taru and Lek, Monkol and Ward, Lucas D and Kheradpour, Pouya and Iriarte, Benjamin and Meng, Yan and Palmer, Cameron D and Esko, Tõnu and Winckler, Wendy and Hirschhorn, Joel N and Kellis, Manolis and MacArthur, Daniel G and Getz, Gad and Shabalin, Andrey A and Li, Gen and Zhou, Yi-Hui and Nobel, Andrew B and Rusyn, Ivan and Wright, Fred A and Lappalainen, Tuuli and Ferreira, Pedro G and Ongen, Halit and Rivas, Manuel A and Battle, Alexis and Mostafavi, Sara and Monlong, Jean and Sammeth, Michael and Melé, Marta and Reverter, Ferran and Goldmann, Jakob M and Koller, Daphne and Guigó, Roderic and McCarthy, Mark I and Dermitzakis, Emmanouil T and Gamazon, Eric R and Im, Hae Kyung and Konkashbaev, Anuar and Nicolae, Dan L and Cox, Nancy J and Flutre, Timothée and Wen, Xiaoquan and Stephens, Matthew and Pritchard, Jonathan K and Tu, Zhidong and Zhang, Bin and Huang, Tao and Long, Quan and Lin, Luan and Yang, Jialiang and Zhu, Jun and Liu, Jun and Brown, Amanda and Mestichelli, Bernadette and Tidwell, Denee and Lo, Edmund and Salvatore, Michael and Shad, Saboor and Thomas, Jeffrey A and Lonsdale, John T and Moser, Michael T and Gillard, Bryan M and Karasik, Ellen and Ramsey, Kimberly and Choi, Christopher and Foster, Barbara A and Syron, John and Fleming, Johnell and Magazine, Harold and Hasz, Rick and Walters, Gary D and Bridge, Jason P and Miklos, Mark and Sullivan, Susan and Barker, Laura K and Traino, Heather M and Mosavel, Maghboeba and Siminoff, Laura A and Valley, Dana R and Rohrer, Daniel C and Jewell, Scott D and Branton, Philip A and Sobin, Leslie H and Barcus, Mary and Qi, Liqun and McLean, Jeffrey and Hariharan, Pushpa and Um, Ki Sung and Wu, Shenpei and Tabor, David and Shive, Charles and Smith, Anna M and Buia, Stephen A and ... and GTEx Consortium and The GTEx Consortium
Science, ISSN 0036-8075, 05/2015, Volume 348, Issue 6235, pp. 648 - 660
Journal Article