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1. Full Text Rare and low-frequency coding variants alter human adult height
by Marouli, Eirini and Graff, Mariaelisa and Medina-Gomez, Carolina and Lo, Ken Sin and Wood, Anew R and Kjaer, Troels R and Fine, Rebecca S and Lu, Yingchang and Schurmann, Claudia and Highland, Heather M and Rüeger, Sina and Thorleifsson, Gudmar and Justice, Anne E and Lamparter, David and Stirrups, Kathleen E and Turcot, Valérie and Young, Kristin L and Winkler, Thomas W and Esko, Tõnu and Karaderi, Tugce and Locke, Adam E and Masca, Nicholas G. D and Ng, Maggie C. Y and Mudgal, Poorva and Rivas, Manuel A and Vedantam, Sailaja and Mahajan, Anubha and Guo, Xiuqing and Abecasis, Goncalo and Aben, Katja K and Adair, Linda S and Alam, Dewan S and Albrecht, Eva and Allin, Kristine H and Allison, Matthew and Amouyel, Philippe and Appel, Emil V and Arveiler, Dominique and Asselbergs, Folkert W and Auer, Paul L and Balkau, Beverley and Banas, Bernhard and Bang, Lia E and Benn, Marianne and Bergmann, Sven and Bielak, Lawrence F and Blüher, Matthias and Boeing, Heiner and Boerwinkle, Eric and Böger, Carsten A and Bonnycastle, Lori L and Bork-Jensen, Jette and Bots, Michiel L and Bottinger, Erwin P and Bowden, Donald W and Brandslund, Ivan and Breen, Gerome and Brilliant, Murray H and Broer, Linda and Burt, Amber A and Butterworth, Adam S and Carey, David J and Caulfield, Mark J and Chambers, John C and Chasman, Daniel I and Chen, Yii-Der Ida and Chowdhury, Rajiv and Christensen, Cramer and Chu, Auey Y and Cocca, Massimiliano and Collins, Francis S and Cook, James P and Corley, Janie and Galbany, Jordi Corominas and Cox, Amanda J and Cuellar-Partida, Gabriel and Danesh, John and Davies, Gail and de Bakker, Paul I. W and de Borst, Gert J and de Denus, Simon and de Groot, Mark C. H and de Mutsert, Renée and Deary, Ian J and Dedoussis, George and Demerath, Ellen W and den Hollander, Anneke I and Dennis, Joe G and Di Angelantonio, Emanuele and nos, Fotios and Du, Mengmeng and Dunning, Alison M and Easton, Douglas F and Ebeling, Tapani and Edwards, Todd L and Ellinor, Patrick T and Elliott, Paul and Evangelou, Evangelos and Farmaki, Aliki-Eleni and Faul, Jessica D and ... and EPIC-CVD Consortium and GoT2D Genes Consortium and MAGIC Investigators and Global Lipids Genetics Consortium and EPIC-InterAct Consortium and ReproGen Consortium and ExomeBP Consortium and CHD Exome Consortium and T2D-Genes Consortium and CHD Exome+ Consortium and The EPIC-InterAct Consortium
Nature (London), ISSN 0028-0836, 2017, Volume 542, Issue 7640, pp. 186 - 190
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Cell Adhesion Molecules - genetics | Gene Frequency - genetics | Humans | Glycoproteins - metabolism | Male | Intercellular Signaling Peptides and Proteins - metabolism | Hedgehog Proteins - genetics | Proteolysis | NADPH Oxidases - genetics | Adult | Female | Interleukin-11 Receptor alpha Subunit - genetics | Somatomedins - metabolism | Glycosaminoglycans - biosynthesis | Glycoproteins - genetics | Multifactorial Inheritance - genetics | Procollagen N-Endopeptidase - genetics | Intercellular Signaling Peptides and Proteins - genetics | Interferon Regulatory Factors - genetics | Proteoglycans - biosynthesis | NADPH Oxidase 4 | Body Height - genetics | Genome, Human - genetics | Phenotype | Receptors, Androgen - genetics | Alleles | Genetic Variation - genetics | Pregnancy-Associated Plasma Protein-A - metabolism | ADAMTS Proteins - genetics | Stature | Genetic aspects | Observations | Genetic variation | Studies | Datasets | Disease | Genes | Deoxyribonucleic acid--DNA | Index Medicus | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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2. Full Text High-frequency modification of plant genes using engineered zinc-finger nucleases
by Townsend, Jeffrey A and Wright, David A and Winfrey, Ronnie J and Fu, Fengli and Maeder, Morgan L and Joung, J. Keith and Voytas, Daniel F
Nature (London), ISSN 0028-0836, 05/2009, Volume 459, Issue 7245, pp. 442 - 445
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetic engineering applications | Genetics and breeding of economic plants | Agronomy. Soil science and plant productions | Plant breeding: fundamental aspects and methodology | Transformation, Genetic | Amino Acid Sequence | Gene Targeting - methods | Herbicide Resistance - genetics | Zinc Fingers | Tobacco - drug effects | Molecular Sequence Data | Herbicides - pharmacology | Deoxyribonucleases - metabolism | Deoxyribonucleases - genetics | Genes, Plant - genetics | Tobacco - genetics | Base Sequence | Plants, Genetically Modified | Alleles | Protein Engineering | Acetolactate Synthase - genetics | Recombination, Genetic - genetics | Food, Genetically Modified | Tobacco - enzymology | Deoxyribonucleases - chemistry | Nucleases | Usage | Plant genetics | Nucleotide sequencing | Research | Properties | Methods | Herbicides | Mutagenesis | Genes | Fingers & toes | Flowers & plants | Experiments | Zinc | Index Medicus
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3. Full Text The functional spectrum of low-frequency coding variation
by Marth, Gabor T and Yu, Fuli and Indap, Amit R and Garimella, Kiran and Gravel, Simon and Leong, Wen F and Tyler-Smith, Chris and Bainbridge, Matthew and Blackwell, Tom and Zheng-Bradley, Xiangqun and Chen, Yuan and Challis, Danny and Clarke, Laura and Ball, Edward V and Cibulskis, Kristian and Cooper, David N and Fulton, Bob and Hartl, Chris and Koboldt, Dan and Muzny, Donna and Smith, Richard and Sougnez, Carrie and Stewart, Chip and Ward, Alistair and Yu, Jin and Xue, Yali and Altshuler, David and Bustamante, Carlos D and Clark, Andrew G and Daly, Mark and DePristo, Mark and Flicek, Paul and Gabriel, Stacey and Mardis, Elaine and Palotie, Aarno and Gibbs, Richard and 1000 Genomes Project and the 1000 Genomes Project
Genome Biology, ISSN 1474-7596, 09/2011, Volume 12, Issue 9, pp. R84 - R84
Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Genetics, Population | Oligonucleotide Array Sequence Analysis | Exons | Gene Frequency | Humans | Genotype | INDEL Mutation | Sequence Alignment - methods | Algorithms | Base Sequence | Sensitivity and Specificity | Alleles | Polymorphism, Single Nucleotide | Genome, Human | Sequence Analysis, DNA - methods | Index Medicus | Research
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4. Full Text Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis
by Manousaki, Despoina and Dudding, Tom and Haworth, Simon and Hsu, Yi-Hsiang and Liu, Ching-Ti and Medina-Gómez, Carolina and Voortman, Trudy and van der Velde, Nathalie and Melhus, Håkan and Robinson-Cohen, Cassianne and Cousminer, Diana L and Nethander, Maria and Vandenput, Liesbeth and Noordam, Raymond and Forgetta, Vincenzo and Greenwood, Celia M.T and Biggs, Mary L and Psaty, Bruce M and Rotter, Jerome I and Zemel, Babette S and Mitchell, Jonathan A and Taylor, Bruce and Lorentzon, Mattias and Karlsson, Magnus and Jaddoe, Vincent V.W and Tiemeier, Henning and Campos-Obando, Natalia and Franco, Oscar H and Utterlinden, Andre G and Broer, Linda and van Schoor, Natasja M and Ham, Annelies C and Ikram, M. Arfan and Karasik, David and de Mutsert, Renée and Rosendaal, Frits R and den Heijer, Martin and Wang, Thomas J and Lind, Lars and Orwoll, Eric S and Mook-Kanamori, Dennis O and Michaëlsson, Karl and Kestenbaum, Bryan and Ohlsson, Claes and Mellström, Dan and de Groot, Lisette C.P.G.M and Grant, Struan F.A and Kiel, Douglas P and Zillikens, M. Carola and Rivadeneira, Fernando and Sawcer, Stephen and Timpson, Nicholas J and Richards, J. Brent and Göteborgs universitet and Gothenburg University and Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition and Sahlgrenska Academy and Core Facilities, Bioinformatics and Centre for Bone and Arthritis Research and Sahlgrenska akademin and Institute of Medicine, Department of Internal Medicine and Clinical Nutrition
American journal of human genetics, ISSN 0002-9297, 08/2017, Volume 101, Issue 2, pp. 227 - 238
GWAS | vitamin D | multiple sclerosis | low-frequency genetic variants | Multiple sclerosis | Vitamin D | Genetic variation | Physiological aspects | Calcifediol | Genetic aspects | Research | Alfacalcidol | Risk factors | Index Medicus | Basic Medicine | variants | Genetics & Heredity | plasma-levels | framework | imputation | discovery | rare | Medicinska grundvetenskaper | sequencing data | reference panel | genome-wide association | alleles | Low-frequency genetic variants
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5. Full Text PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome: A Genome-Wide Meta-Analysis
by Mola-Caminal, Marina and Carrera, Caty and Soriano-Tárraga, Carolina and Giralt-Steinhauer, Eva and Díaz-Navarro, Rosa M and Tur, Sílvia and Jiménez, Carmen and Medina-Dols, Aina and Cullell, Natàlia and Torres-Aguila, Nuria P and Muiño, Elena and Rodríguez-Campello, Ana and Ois, Angel and Cuadrado-Godia, Elisa and Vivanco-Hidalgo, Rosa M and Hernandez-Guillamon, Mar and Solé, Montse and Delgado, Pilar and Bustamante, Alejandro and García-Berrocoso, Teresa and Mendióroz, Maite and Castellanos, Mar and Serena, Joaquín and Martí-Fàbregas, Joan and Segura, Tomás and Serrano-Heras, Gemma and Obach, Victor and Ribó, Marc and Molina, Carlos A and Alvarez-Sabín, José and Palomeras, Ernest and Freijo, Mar and Font, Maria A and Rosand, Jonathan and Rost, Natalia S and Gallego-Fabrega, Cristina and Lee, Jin-Moo and Heitsch, Laura and Ibanez, Laura and Cruchaga, Carlos and Phuah, Chia-Ling and Lemmens, Robin and Thijs, Vincent and Lindgren, Arne and Maguire, Jane and Rannikmae, Kristiina and Sudlow, Catherine L and Jern, Christina and Stanne, Tara M and Lorentzen, Erik and Muñoz-Narbona, Lucía and Dávalos, Antonio and López-Cancio, Elena and Worrall, Bradford B and Woo, Daniel and Kittner, Steven J and Mitchell, Braxton D and Montaner, Joan and Roquer, Jaume and Krupinski, Jurek and Estivill, Xavier and Rabionet, Raquel and Vives-Bauzá, Cristòfol and Fernández-Cadenas, Israel and Jiménez-Conde, Jordi and Institutionen för biomedicin and Göteborgs universitet and Gothenburg University and Sahlgrenska Academy and Core Facilities, Bioinformatics and Sahlgrenska akademin and Institute of Biomedicine
Circulation research, ISSN 0009-7330, 01/2019, Volume 124, Issue 1, pp. 114 - 120
Cardiac & Cardiovascular Systems | Peripheral Vascular Disease | Life Sciences & Biomedicine | Hematology | Cardiovascular System & Cardiology | Science & Technology | Stroke (Disease) | Genome-wide association studies | Phenotype | Analysis | Patient outcomes | Genetic aspects | Research | Meta-analysis | People with disabilities | Cerebral ischemia | Isquèmia cerebral | Discapacitats | scale | genetic loci | Kardiologi | Medicinsk genetik | Medical Genetics | Cardiac and Cardiovascular Systems | genetics | Hematologi | allele | genome-wide association study | genetic variant | ischemic stroke
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6. Full Text Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
by Huang, Jie and Howie, Bryan and McCarthy, Shane and Memari, Yasin and Walter, Klaudia and Min, Josine L and Danecek, Petr and Malerba, Giovanni and Trabetti, Elisabetta and Zheng, Hou-Feng and Gambaro, Giovanni and Richards, Brent and Durbin, Richard and Timpson, Nicholas and Marchini, Jonathan and Soranzo, Nicole and Al Turki, Saeed and Amuzu, Antoinette and Anderson, Carl and Anney, Richard and Antony, Dinu and Artigas, M.S and Ayub, Muhammad and Bala, Senduran and Barrett, Jeffrey and Barroso, Inês and Beales, Philip and Benn, Marianne 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 Casas, Juan Pablo and Chambers, John C 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 and Cosgrove, Catherine and Cox, Tony and Craddock, Nick and Crooks, Lucy and Curran, Sarah and Curtis, David and Daly, Allan and Day, Ian N.M and Day-Williams, Aaron and Dedoussis, George and Down, Thomas and Du, Yuanping and Duijn, Cornelia and Dunham, Ian and Edkins, Ted and Ekong, Rosemary and Ellis, Peter and Evans, David 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 Gasparini, Paolo and Gaunt, Tom and Geihs, Matthias and Geschwind, Daniel and Greenwood, Celia and Griffin, Heather and Grozeva, Detelina and Guo, Xiaosen and Guo, Xueqin and Gurling, Hugh and Hart, Deborah and Henicks, Auey E and Holmans, Peter A and Huang, Liren and Hubbard, Tim and Humphries, Steve E and Hurles, Matthew and Hysi, Pirro and Iotchkova, Valentina and Isaacs, Aaron and Jackson, David K and Jamshidi, Yalda and ... and UK10K Consortium
Nature communications, ISSN 2041-1723, 09/2015, Volume 6, Issue 1, pp. 8111 - 8111
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Haplotypes | European Continental Ancestry Group - genetics | Gene Frequency | Humans | Middle Aged | Genotype | United Kingdom | Models, Statistical | Genetic Variation | Young Adult | Adolescent | Alleles | Aged, 80 and over | Adult | Italy | Aged | Models, Genetic | Polymorphism, Single Nucleotide | Genome, Human | Index Medicus
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7. Full Text Using high-resolution variant frequencies to empower clinical genome interpretation
by Whiffin, Nicola and Minikel, Eric and Walsh, Roddy and O'Donnell-Luria, Anne H and Karczewski, Konrad and Ing, Alexander Y and Barton, Paul J. R and Funke, Birgit and Cook, Stuart A and Macarthur, Daniel and Ware, James S
Genetics in medicine, ISSN 1098-3600, 10/2017, Volume 19, Issue 10, pp. 1151 - 1158
clinical genomics | inherited cardiovascular conditions | ExAC | variant interpretation | allele frequency | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exome | Cardiomyopathies - genetics | Gene Frequency - genetics | Humans | Databases, Genetic | Penetrance | Genetic Variation - genetics | Sequence Analysis, DNA - statistics & numerical data | Whole Genome Sequencing - methods | Sequence Analysis, DNA - methods | Whole Exome Sequencing - methods | Genomes | Index Medicus | Original
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8. Full Text Genome‐wide analysis of allele frequency change in sunflower crop–wild hybrid populations evolving under natural conditions
by Corbi, Jonathan and Baack, Eric J and Dechaine, Jennifer M and Seiler, Gerald and Burke, John M
Molecular ecology, ISSN 0962-1083, 01/2018, Volume 27, Issue 1, pp. 233 - 247
crop‐wild hybridization | gene flow | Helianthus annuus | natural selection | domestication traits | allele frequency | crop-wild hybridization | Biochemistry & Molecular Biology | Environmental Sciences & Ecology | Ecology | Life Sciences & Biomedicine | Evolutionary Biology | Science & Technology | Biological Evolution | Gene Frequency - genetics | Phenotype | Hybridization, Genetic | Domestication | Genotype | Chromosome Mapping | Crops, Agricultural - genetics | Genome, Plant | Helianthus - genetics | Quantitative Trait Loci - genetics | Quantitative genetics | Genetic markers | Genetically modified crops | Analysis | Genomics | Genetic research | Population genetics | Natural selection | Dynamic structural analysis | Phenotypes | Populations | Genetic structure | Crops | Biological evolution | Genomes | Single-nucleotide polymorphism | Hybridization | Quantitative trait loci | Gene frequency | Genetically modified organisms | Alleles | Gene mapping | Index Medicus
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