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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 and Medicinska fakulteten and Institutionen för folkhälsa och klinisk medicin and Enheten för biobanksforskning and Allmänmedicin and Umeå universitet and Medicin
Nature, ISSN 0028-0836, 2017, Volume 542, Issue 7640, pp. 186 - 190
Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so... 
MULTIDISCIPLINARY SCIENCES | MISSING HERITABILITY | GENETIC ARCHITECTURE | INTERLEUKIN-11 | MICE | MUTATIONS | GENOME-WIDE ASSOCIATION | 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 | Hälsovetenskaper | Folkhälsovetenskap, global hälsa, socialmedicin och epidemiologi | Medical and Health Sciences | Medicin och hälsovetenskap | Public Health, Global Health, Social Medicine and Epidemiology | Health Sciences
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2. Full Text High-frequency modification of plant genes using engineered zinc-finger nucleases
by Maeder, Morgan L and Voytas, Daniel F and Townsend, Jeffrey A and Fu, Fengli and Joung, J. Keith and Wright, David A and Winfrey, Ronnie J
Nature, ISSN 0028-0836, 05/2009, Volume 459, Issue 7245, pp. 442 - 445
An efficient method for making directed DNA sequence modifications to plant genes (gene targeting) is at present lacking, thereby frustrating efforts to... 
RESISTANCE | TOXICITY | HOMOLOGOUS RECOMBINATION | MAMMALIAN-CELLS | MULTIDISCIPLINARY SCIENCES | 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
Background: Rare coding variants constitute an important class of human genetic variation, but are underrepresented in current databases that are based on... 
HUMAN GENOME | VARIANTS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | GENERATION | POLYMORPHISM | MAP | DISCOVERY | HUMAN-POPULATIONS | 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 Allele frequency net database
by Gonzalez-Galarza, Faviel F and McCabe, Antony and Melo dos Santos, Eduardo J and Takeshita, Louise and Ghattaoraya, Gurpreet and Jones, Andrew R and Middleton, Derek
Methods in Molecular Biology, ISSN 1064-3745, 2018, Volume 1802, pp. 49 - 62
The allele frequency net database (AFND, http://www.allelefrequencies.net ) is an online web-based repository that contains information on the frequencies of... 
Immunogenetics | Frequencies | HLA | Polymorphisms | Population genetics | Geography | Genetics, Population | Haplotypes - genetics | Gene Frequency | Humans | Alleles | Databases, Genetic | HLA Antigens - genetics | Internet | Epitopes - genetics | Index Medicus
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5. Full Text An Agrobacterium‐delivered CRISPR/Cas9 system for high‐frequency targeted mutagenesis in maize
by Char, Si Nian and Neelakandan, Anjanasree K and Nahampun, Hartinio and Frame, Bronwyn and Main, Marcy and Spalding, Martin H and Becraft, Philip W and Meyers, Blake C and Walbot, Virginia and Wang, Kan and Yang, Bing
Plant Biotechnology Journal, ISSN 1467-7644, 02/2017, Volume 15, Issue 2, pp. 257 - 268
CRISPR /Cas9 is a powerful genome editing tool in many organisms, including a number of monocots and dicots. Although the design and application of CRISPR... 
anthocyaninless | CRISPR | Argonaute | Cas9 | gene editing | maize | targeted mutagenesis | CRISPR/Cas9 | CELLS | RNA | MEDIATED TRANSFORMATION | CAPABILITY | PLANT SCIENCES | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | DNA | PLANTS | CAS9 | ARABIDOPSIS | EXPRESSION | RICE | Gene Targeting | Zea mays - genetics | Argonaute Proteins - genetics | Plants, Genetically Modified - genetics | Genes, Plant | Genome, Plant | Chromosomes, Plant | CRISPR-Cas Systems - genetics | Gene Editing | Genetic Vectors - genetics | Inheritance Patterns | Mutagenesis | Base Sequence | CRISPR-Associated Proteins - metabolism | Alleles | Agrobacterium - genetics | Clustered Regularly Interspaced Short Palindromic Repeats - genetics | RNA, Guide | Mutation | Gene mutations | Escherichia coli | Genomics | Corn | Genetic engineering | Health aspects | Corn industry | Genomes | Genes | Index Medicus
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6. Full Text A D+ blood donor with a novel RHDD‐CE(5‐6)‐D gene variant exhibits the low‐frequency antigen RH23 (DW) characteristic of the partial DVa phenotype
by Lopez, Genghis H and McGowan, Eunike C and McGrath, Kelli A and Abaca‐Cleopas, Maria E and Schoeman, Elizna M and Millard, Glenda M and O'Brien, Helen and Liew, Yew‐Wah and Flower, Robert L and Hyland, Catherine A
Transfusion, ISSN 0041-1132, 09/2016, Volume 56, Issue 9, pp. 2322 - 2330
Blood donors whose red blood cells (RBCs) exhibit a partial RhD phenotype, lacking some D epitopes, present as D+ in routine screening. Such phenotypes can... 
Epitopes - immunology | Gene Frequency - genetics | Phenotype | Rh-Hr Blood-Group System - genetics | Humans | Alleles | Erythrocytes - metabolism | Exons - genetics | Rh-Hr Blood-Group System - immunology | Blood Donors - statistics & numerical data | Epitopes - blood | Biological products | Genes | Monoclonal antibodies | Genetic research | Exhibitions | Genetic aspects | Nucleotide sequencing | Blood donors | Antigenic determinants | DNA sequencing | Blood & organ donations | Genotype & phenotype | Index Medicus
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7. 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
Circulation Research, ISSN 0009-7330, 01/2019, Volume 124, Issue 1, pp. 114 - 120
RATIONALE:Ischemic stroke is among the leading causes of adult disability. Part of the variability in functional outcome after stroke has been attributed to... 
CARDIAC & CARDIOVASCULAR SYSTEMS | GENETICS | allele | genome-wide association study | PERIPHERAL VASCULAR DISEASE | genetic variant | SCALE | HEMATOLOGY | genetic loci | ischemic stroke | Stroke (Disease) | Genome-wide association studies | Phenotype | Analysis | Patient outcomes | Genetic aspects | Research | Meta-analysis
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8. 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
textabstractImputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the... 
TWINSUK | GENOTYPE IMPUTATION | FORMAT | MULTIDISCIPLINARY SCIENCES | Index Medicus
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9. 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 occurs in numerous plant species and could alter the genetic structure and evolutionary dynamics of wild populations. Studying... 
crop‐wild hybridization | gene flow | Helianthus annuus | natural selection | domestication traits | allele frequency | crop-wild hybridization | LIFE-HISTORY TRAITS | PERSISTENCE | BIOCHEMISTRY & MOLECULAR BIOLOGY | HELIANTHUS-ANNUUS-L | INTROGRESSION | EVOLUTIONARY BIOLOGY | EASTERN NORTH-AMERICA | ECOLOGY | WEEDY POPULATIONS | SELECTION | RISK-ASSESSMENT | 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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10. Full Text Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency
by Rim, John Hoon and Lee, Joon Suk and Jung, Jinsei and Lee, Ji Hyun and Lee, Seung-Tae and Choi, Jong Rak and Choi, Jae Young and Lee, Min Goo and Gee, Heon Yung
Scientific Reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 4583 - 9
As the number of genes identified for linkage to hearing loss has been increasing and more public databases have become available, we aimed to systematically... 
DATABASE | IDENTIFICATION | MULTIDISCIPLINARY SCIENCES | INTERPRETATION GUIDELINES | Pathogenicity | Hearing | Databases | Gene frequency | Benign | Alleles | Hearing impairment | Population genetics | Hearing loss
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11. Full Text Spectrum of CFTR mutations in Chechen cystic fibrosis patients: High frequency of c.1545-1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus
by Petrova, N.V and Kashirskaya, N.Y and Saydaeva, D.K and Polyakov, A.V and Adyan, T.A and Simonova, O.I and Gorinova, Y.V and Kondratyeva, E.I and Sherman, V.D and Novoselova, O.G and Vasilyeva, T.A and Marakhonov, A.V and Macek, M and Ginter, E.K and Zinchenko, R.A
BMC Medical Genetics, ISSN 1471-2350, 03/2019, Volume 20, Issue 1, pp. 44 - 44
BackgroundCystic fibrosis (CF; OMIM #219700) is a common autosomal recessive disease caused by pathogenic variants (henceforward mutations) in the cystic... 
Chechens | CFTR mutations | Cystic fibrosis | Russian Federation | c.1545-1546delTA (p.Tyr515X; 1677delTA) | Caucasus | GENETICS & HEREDITY | c.1545_1546delTA (p.Tyr515X; 1677delTA) | Gene mutations | Genetic aspects | Diagnosis | Research | Health aspects | Haplotypes | Integrated software | Handbooks | Citizenship | Minority & ethnic groups | Homozygotes | Genetic counseling | Genetic analysis | Alleles | Fibrosis | Population | Genetics | Conductance | Mutation | Deoxyribonucleic acid--DNA | Genotypes
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