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1. Full Text A systematic survey of loss-of-function variants in human protein-coding genes (vol 335, pg 823, 2012)
by MacArthur, DG
SCIENCE, ISSN 0036-8075, 04/2012, Volume 336, Issue 6079, pp. 296 - 296
MULTIDISCIPLINARY SCIENCES
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2. Full Text Loss-of-function variants in the genomes of healthy humans
by MacArthur, Daniel G and Tyler-Smith, Chris
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
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3. Full Text The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity
by Grimm, Dominik G and Azencott, Chloé‐Agathe and Aicheler, Fabian and Gieraths, Udo and MacArthur, Daniel G and Samocha, Kaitlin E and Cooper, David N and Stenson, Peter D and Daly, Mark J and Smoller, Jordan W and Duncan, Laramie E and Borgwardt, Karsten M
Human Mutation, ISSN 1059-7794, 05/2015, Volume 36, Issue 5, pp. 513 - 523
ABSTRACT Prioritizing missense variants for further experimental investigation is a key challenge in current sequencing studies for exploring complex and... 
pathogenicity prediction tools | exome sequencing | Exome sequencing | Pathogenicity prediction tools | LIBRARY | HIDDEN MARKOV-MODELS | IDENTIFICATION | CELL LUNG-CANCER | GENETIC-VARIATION | DATABASE | FUNCTIONAL IMPACT | GENETICS & HEREDITY | CONSEQUENCES | MUTATIONS | TRAITS | Computational Biology - methods | Reproducibility of Results | Datasets as Topic | Humans | Software | Internet | Mutation, Missense | Web Browser | Genetic disorders | Mutation | Life Sciences | Quantitative Methods
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4. Full Text Genome-wide Generation and Systematic Phenotyping of Knockout Mice Reveals New Roles for Many Genes
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
Mutations in whole organisms are powerful ways of interrogating gene function in a realistic context. We describe a program, the Sanger Institute Mouse... 
INTELLECTUAL DISABILITY | ROBUSTNESS | GENETICS | DUPLICATE GENES | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE | MUTATIONS | TRANSMEMBRANE PROTEINS | EXPRESSION | DEFICIENCY CAUSES | RESOURCE | CELL BIOLOGY | Genome-Wide Association Study | Phenotype | Animals | Disease - genetics | Female | Male | Mice | Genetic Techniques | Genes, Essential | Disease Models, Animal | Mice, Knockout | Genetic research | Analysis | Genomics | Resource
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5. Full Text Scientific Program of 33rd World Congress of Endourology & SWL Program Book
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
Abstracts
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6. Full Text The landscape of genomic imprinting across diverse adult human tissues
by Baran, Yael and Subramaniam, Meena and Biton, Anne and Tukiainen, Taru and Tsang, Emily K and Rivas, Manuel A and Pirinen, Matti and Gutierrez-Arcelus, Maria and Smith, Kevin S and Kukurba, Kim R and Zhang, Rui and Eng, Celeste and Torgerson, Dara G and Urbanek, Cydney and Li, Jin Billy and Rodriguez-Santana, Jose R and Burchard, Esteban G and Seibold, Max A and MacArthur, Daniel G and Montgomery, Stephen B and Zaitlen, Noah A and Lappalainen, Tuuli and GTEx Consortium and the GTEx Consortium
Genome Research, ISSN 1088-9051, 07/2015, Volume 25, Issue 7, pp. 927 - 936
Genomic imprinting is an important regulatory mechanism that silences one of the parental copies of a gene. To systematically characterize this phenomenon, we... 
TRANSCRIPTOME | RANDOM MONOALLELIC EXPRESSION | HUMAN GRB10 | HUMAN-CELLS | BIOCHEMISTRY & MOLECULAR BIOLOGY | ALLELE-SPECIFIC EXPRESSION | IDENTIFICATION | ORIGIN | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | DISEASE | GENETICS & HEREDITY | GENE-EXPRESSION | BRAIN | Genomic Imprinting | Reproducibility of Results | Genomics | Humans | Gene Expression Regulation | Genotype | Male | Genetic Variation | Organ Specificity - genetics | DNA Methylation | Alleles | Sex Factors | Adult | Female | Polymorphism, Single Nucleotide | Databases, Nucleic Acid | Cluster Analysis | Genetic research | Genetic aspects | Research | Tissues | Genomic imprinting
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7. Full Text The ExAC browser: Displaying reference data information from over 60 000 exomes
by Karczewski, Konrad J and Weisburd, Ben and Thomas, Brett and Solomonson, Matthew and Ruderfer, Douglas M and Kavanagh, David and Hamamsy, Tymor and Lek, Monkol and Samocha, Kaitlin E and Cummings, Beryl B and Birnbaum, Daniel and Daly, Mark J and MacArthur, Daniel G and Exome Aggregation Consortium and The Exome Aggregation Consortium
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
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8. Full Text Dindel: Accurate indel calls from short-read data
by Albers, Cornelis A and Lunter, Gerton and MacArthur, Daniel G and McVean, Gilean and Ouwehand, Willem H and Durbin, Richard
Genome Research, ISSN 1088-9051, 06/2011, Volume 21, Issue 6, pp. 961 - 973
Small insertions and deletions (indels) are a common and functionally important type of sequence polymorphism. Most of the focus of studies of sequence... 
ELEMENTS | PROJECT | HUMAN GENOME | ALIGNMENT | SEQUENCE DATA | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | MUSCLE | MAP | Haplotypes - genetics | Likelihood Functions | Algorithms | Bayes Theorem | INDEL Mutation - genetics | Models, Genetic | Software | Sequence Analysis, DNA - methods | Bayesian statistical decision theory | Usage | Genetic variation | Analysis | Chromosome deletion | Research | Genetic polymorphisms | Resource
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9. Full Text Human disease genomics: From variants to biology
by McCarthy, Mark I and MacArthur, Daniel G
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
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10. Full Text Analysis of protein-coding genetic variation in 60,706 humans
by Lek, M and Karczewski, K.J and Minikel, E.V and Samocha, K.E and Posthuma, D and Exome Aggregation Consortium, [Unknown] and Exome Aggregation Consortium
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
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11. Full Text Guidelines for investigating causality of sequence variants in human disease
by MacArthur, D.G and Manolio, T.A and Dimmock, D.P and Rehm, H.L and Shendure, J and Abecasis, G.R and Adams, D.R and Altman, R.B and Antonarakis, S.E and Ashley, E.A and Barrett, J.C and Biesecker, L.G and Conrad, D.F and Cooper, G.M and Cox, N.J and Daly, M.J and Gerstein, M.B and Goldstein, D.B and Hirschhorn, J.N and Leal, S.M and Pennacchio, L.A and Stamatoyannopoulos, J.A and Sunyaev, S.R and Valle, D and Voight, B.F and Winckler, W and Gunter, C
Nature, ISSN 0028-0836, 2014, Volume 508, Issue 7497, pp. 469 - 476
The discovery of rare genetic variants is accelerating, and clear guidelines for distinguishing disease-causing sequence variants from the many potentially... 
INTELLECTUAL DISABILITY | POPULATION | HUMAN GENOME | DE-NOVO MUTATIONS | PROTEIN-CODING GENES | RARE VARIANTS | MULTIDISCIPLINARY SCIENCES | PHENOTYPE | AUTISM SPECTRUM DISORDERS | COMPLEX TRAITS | ASSOCIATION | Genetic Predisposition to Disease - genetics | Guidelines as Topic | Reproducibility of Results | Publishing | Disease | Humans | Translational Medical Research - standards | Genes - genetics | Genetic Variation - genetics | False Positive Reactions | Research Design | Information Dissemination | Genetic aspects | Disease transmission | Research | Genetic translation | Genomics | Studies | Medical research | Causality | Genes
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12. Full Text The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
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
Understanding the functional consequences of genetic variation, and how it affects complex human disease and quantitative traits, remains a critical challenge... 
INDIVIDUALS | VARIANTS | MULTIDISCIPLINARY SCIENCES | DISEASE | ARCHITECTURE | SYSTEMS | LOCI | HUMAN TRANSCRIPTOME | IDENTIFICATION | GENOME-WIDE ASSOCIATION | RESOURCE | Quantitative genetics | Analysis | Genes | Genomics | Genetic research | Genetic aspects | Gene expression | Genotype | Genetic regulation | Identification and classification | Genotype & phenotype | Transcription factors | Genetic diversity | Consortia | Heterogeneity | Landscapes | Government regulations | Pilots | Genetics | Loci | Life Sciences
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