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Results: 119
Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.
Helen R Griffin, Angela Pyle, Emma L Blakely, Charlotte L Alston, Jennifer Duff, Gavin Hudson, Rita Horvath, Ian J Wilson, Mauro Santibanez-Koref, Robert W Taylor, Patrick F Chinnery
Mar 07, 2019
PURPOSE: Mitochondrial disorders are a common cause of inherited metabolic disease and can be due to mutations affecting mitochondrial DNA or nuclear DNA. The current diagnostic approach involves the targeted resequencing of...
Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci.
Jingtao Lilue, Anthony G Doran, Ian T Fiddes, Monica Abrudan, Joel Armstrong, Ruth Bennett, William Chow, Joanna Collins, Stephan Collins, Anne Czechanski, Petr Danecek, Mark Diekhans, Dirk-Dominik Dolle, Matt Dunn, Richard Durbin, Dent Earl, Anne Ferguson-Smith, Paul Flicek, Jonathan Flint, Adam Frankish, Beiyuan Fu, Mark Gerstein, James Gilbert, Leo Goodstadt, Jennifer Harrow, Kerstin Howe, Ximena Ibarra-Soria, Mikhail Kolmogorov, Chris J Lelliott, Darren W Logan, Jane Loveland, Clayton E Mathews, Richard Mott, Paul Muir, Stefanie Nachtweide, Fabio CP Navarro, Duncan T Odom, Naomi Park, Sarah Pelan, Son K Pham, Mike Quail, Laura Reinholdt, Lars Romoth, Lesley Shirley, Cristina Sisu, Marcela Sjoberg-Herrera, Mario Stanke, Charles Steward, Mark Thomas, Glen Threadgold, David Thybert, James Torrance, Kim Wong, Jonathan Wood, Binnaz Yalcin, Fengtang Yang, David J Adams, Benedict Paten, Thomas M Keane
Nov 22, 2018
We report full-length draft de novo genome assemblies for 16 widely used inbred mouse strains and find extensive strain-specific haplotype variation. We identify and characterize 2,567 regions on the current mouse reference...
Chromosome painting in Glyphorynchus spirurus (Vieillot, 1819) detects a new fission in Passeriformes.
Talita Fernanda Augusto Ribas, Cleusa Yoshiko Nagamachi, Alexandre Aleixo, Melquizedec Luiz Silva Pinheiro, Patricia Caroline Mary O Brien, Malcolm Andrew Ferguson-Smith, Fengtang Yang, Pablo Suarez, Julio Cesar Pieczarka
Nov 22, 2018
Glyphorynchus spirurus (GSP), also called the Wedge-billed Woodcreeper (Furnariidae) has an extensive distribution in the Americas, including the Atlantic coast of Brazil. Nevertheless, there is no information about its...
Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes.
Lisa M Maier, Deborah J Smyth, Adrian Vella, Felicity Payne, Jason D Cooper, Rebecca Pask, Christopher Lowe, John Hulme, Luc J Smink, Heather Fraser, Carolyn Moule, Kara M Hunter, Giselle Chamberlain, Neil Walker, Sarah Nutland, Dag E Undlien, Kjersti S Rønningen, Cristian Guja, Constantin Ionescu-Tîrgoviste, David A Savage, David P Strachan, Laurence B Peterson, John A Todd, Linda S Wicker, Rebecca C Twells
Jun 14, 2011
A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.
Arundhati Dev Borman, Laura R Pearce, Donna S Mackay, Kerstin Nagel-Wolfrum, Alice E Davidson, Robert Henderson, Sumedha Garg, Naushin H Waseem, Andrew R Webster, Vincent Plagnol, Uwe Wolfrum, I Sadaf Farooqi, Anthony T Moore
Mar 17, 2015
Stochastic search and joint fine-mapping increases accuracy and identifies previously unreported associations in immune-mediated diseases.
Jennifer L Asimit, Daniel B Rainbow, Mary D Fortune, Nastasiya F Grinberg, Linda S Wicker, Chris Wallace
Jul 17, 2019
Alleles Autoimmunity Bayes Theorem CD4-Positive T-Lymphocytes CTLA-4 Antigen Chromosome Mapping Gene Expression Regulation Genetic Association Studies Genetic Predisposition to Disease Genome-Wide Association Study Genotype Humans Interleukin-2 Receptor alpha Subunit Linkage Disequilibrium Models Genetic Phenotype Polymorphism Single Nucleotide
Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety.
Lee Moir, Elena G Bochukova, Rebecca Dumbell, Gareth Banks, Rasneer S Bains, Patrick M Nolan, Cheryl Scudamore, Michelle Simon, Kimberly A Watson, Julia Keogh, Elana Henning, Audrey Hendricks, Stephen O'Rahilly, Inês Barroso, UK10K consortium, Adrienne E Sullivan, David C Bersten, Murray L Whitelaw, Susan Kirsch, Elizabeth Bentley, I Sadaf Farooqi, Roger D Cox
Jan 24, 2018
OBJECTIVE: Genetic studies in obese rodents and humans can provide novel insights into the mechanisms involved in energy homeostasis. METHODS: In this study, we genetically mapped the chromosomal region underlying the...
Energy balance Human mutation mouse model OTP obesity Oxytocin vasopressin Amino Acid Sequence Animals Anxiety Base Sequence Brain Chromosome Mapping Databases Genetic Female Gene Expression Gene Expression Regulation Developmental Genes Homeobox Homeodomain Proteins Humans Hypothalamus Male Mice Nerve Tissue Proteins Neurosecretory Systems obesity Transcription Factors Transcriptome
Genome sequence of an Australian kangaroo, Macropus eugenii, provides insight into the evolution of mammalian reproduction and development.
Marilyn B Renfree, Anthony T Papenfuss, Janine E Deakin, James Lindsay, Thomas Heider, Katherine Belov, Willem Rens, Paul D Waters, Elizabeth A Pharo, Geoff Shaw, Emily SW Wong, Christophe M Lefèvre, Kevin R Nicholas, Yoko Kuroki, Matthew J Wakefield, Kyall R Zenger, Chenwei Wang, Malcolm Ferguson-Smith, Frank W Nicholas, Danielle Hickford, Hongshi Yu, Kirsty R Short, Hannah V Siddle, Stephen R Frankenberg, Keng Yih Chew, Brandon R Menzies, Jessica M Stringer, Shunsuke Suzuki, Timothy A Hore, Margaret L Delbridge, Hardip R Patel, Amir Mohammadi, Nanette Y Schneider, Yanqiu Hu, William O'Hara, Shafagh Al Nadaf, Chen Wu, Zhi-Ping Feng, Benjamin G Cocks, Jianghui Wang, Paul Flicek, Stephen MJ Searle, Susan Fairley, Kathryn Beal, Javier Herrero, Dawn M Carone, Yutaka Suzuki, Sumio Sugano, Atsushi Toyoda, Yoshiyuki Sakaki, Shinji Kondo, Yuichiro Nishida, Shoji Tatsumoto, Ion Mandiou, Arthur Hsu, Kaighin A McColl, Benjamin Lansdell, George Weinstock, Elizabeth Kuczek, Annette McGrath, Peter Wilson, Artem Men, Mehlika Hazar-Rethinam, Allison Hall, John Davis, David Wood, Sarah Williams, Yogi Sundaravadanam, Donna M Muzny, Shalini N Jhangiani, Lora R Lewis, Margaret B Morgan, Geoffrey O Okwuonu, San Juana Ruiz, Jireh Santibanez, Lynne Nazareth, Andrew Cree, Gerald Fowler, Christie L Kovar, Huyen H Dinh, Vandita Joshi, Chyn Jing, Fremiet Lara, Rebecca Thornton, Lei Chen, Jixin Deng, Yue Liu, Joshua Y Shen, Xing-Zhi Song, Janette Edson, Carmen Troon, Daniel Thomas, Amber Stephens, Lankesha Yapa, Tanya Levchenko, Richard A Gibbs, Desmond W Cooper, Terence P Speed, Asao Fujiyama, Jennifer AM Graves, Rachel J O'Neill, Andrew J Pask, Susan M Forrest, Kim C Worley
Mar 30, 2012
BACKGROUND: We present the genome sequence of the tammar wallaby, Macropus eugenii, which is a member of the kangaroo family and the first representative of the iconic hopping mammals that symbolize Australia to be sequenced....
The evolution of imprinting
Carol A Edwards, Willem Rens, Oliver Clarke, Andrew J Mungall, Timothy Hore, Jennifer A Marshall Graves, Ian Dunham, Anne C Ferguson-Smith, Malcolm A Ferguson-Smith
Jun 16, 2011
Joint modelling of confounding factors and prominent genetic regulators provides increased accuracy in genetical genomics studies.
Expression quantitative trait loci (eQTL) studies are an integral tool to investigate the genetic component of gene expression variation. A major challenge in the analysis of such studies are hidden confounding factors, such as...
The relative timing of mutations in a breast cancer genome.
Scott Newman, Karen D Howarth, Chris D Greenman, Graham R Bignell, Simon Tavaré, Paul AW Edwards
Dec 03, 2020
Many tumors have highly rearranged genomes, but a major unknown is the relative importance and timing of genome rearrangements compared to sequence-level mutation. Chromosome instability might arise early, be a late event...
Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration.
Raymond Noordam, Maxime M Bos, Heming Wang, Thomas W Winkler, Amy R Bentley, Tuomas O Kilpeläinen, Paul S de Vries, Yun Ju Sung, Karen Schwander, Brian E Cade, Alisa Manning, Hugues Aschard, Michael R Brown, Han Chen, Nora Franceschini, Solomon K Musani, Melissa Richard, Dina Vojinovic, Stella Aslibekyan, Traci M Bartz, Lisa de Las Fuentes, Mary Feitosa, Andrea R Horimoto, Marjan Ilkov, Minjung Kho, Aldi Kraja, Changwei Li, Elise Lim, Yongmei Liu, Dennis O Mook-Kanamori, Tuomo Rankinen, Salman M Tajuddin, Ashley van der Spek, Zhe Wang, Jonathan Marten, Vincent Laville, Maris Alver, Evangelos Evangelou, Maria E Graff, Meian He, Brigitte Kühnel, Leo-Pekka Lyytikäinen, Pedro Marques-Vidal, Ilja M Nolte, Nicholette D Palmer, Rainer Rauramaa, Xiao-Ou Shu, Harold Snieder, Stefan Weiss, Wanqing Wen, Lisa R Yanek, Correa Adolfo, Christie Ballantyne, Larry Bielak, Nienke R Biermasz, Eric Boerwinkle, Niki Dimou, Gudny Eiriksdottir, Chuan Gao, Sina A Gharib, Daniel J Gottlieb, José Haba-Rubio, Tamara B Harris, Sami Heikkinen, Raphaël Heinzer, James E Hixson, Georg Homuth, M Arfan Ikram, Pirjo Komulainen, Jose E Krieger, Jiwon Lee, Jingmin Liu, Kurt K Lohman, Annemarie I Luik, Reedik Mägi, Lisa W Martin, Thomas Meitinger, Andres Metspalu, Yuri Milaneschi, Mike A Nalls, Jeff O'Connell, Annette Peters, Patricia Peyser, Olli T Raitakari, Alex P Reiner, Patrick CN Rensen, Treva K Rice, Stephen S Rich, Till Roenneberg, Jerome I Rotter, Pamela J Schreiner, James Shikany, Stephen S Sidney, Mario Sims, Colleen M Sitlani, Tamar Sofer, Konstantin Strauch, Morris A Swertz, Kent D Taylor, André G Uitterlinden, Cornelia M van Duijn, Henry Völzke, Melanie Waldenberger, Robert B Wallance, Ko Willems van Dijk, Caizheng Yu, Alan B Zonderman, Diane M Becker, Paul Elliott, Tõnu Esko, Christian Gieger, Hans J Grabe, Timo A Lakka, Terho Lehtimäki, Kari E North, Brenda WJH Penninx, Peter Vollenweider, Lynne E Wagenknecht, Tangchun Wu, Yong-Bing Xiang, Wei Zheng, Donna K Arnett, Claude Bouchard, Michele K Evans, Vilmundur Gudnason, Sharon Kardia, Tanika N Kelly, Stephen B Kritchevsky, Ruth JF Loos, Alexandre C Pereira, Mike Province, Bruce M Psaty, Charles Rotimi, Xiaofeng Zhu, Najaf Amin, L Adrienne Cupples, Myriam Fornage, Ervin F Fox, Xiuqing Guo, W James Gauderman, Kenneth Rice, Charles Kooperberg, Patricia B Munroe, Ching-Ti Liu, Alanna C Morrison, Dabeeru C Rao, Diana van Heemst, Susan Redline
Feb 07, 2020
Both short and long sleep are associated with an adverse lipid profile, likely through different biological pathways. To elucidate the biology of sleep-associated adverse lipid profile, we conduct multi-ancestry genome-wide...
Improving experimental phases for strong reflections prior to density modification.
Experimental phasing of diffraction data from macromolecular crystals involves deriving phase probability distributions. These distributions are often bimodal, making their weighted average, the centroid phase, improbable, so...
A mouse chromosome 4 balancer ENU-mutagenesis screen isolates eleven lethal lines.
Melissa K Boles, Bonney M Wilkinson, Andrea Maxwell, Lihua Lai, Alea A Mills, Ichiko Nishijima, Andrew P Salinger, Ivan Moskowitz, Karen K Hirschi, Bin Liu, Allan Bradley, Monica J Justice
Oct 14, 2020
BACKGROUND: ENU-mutagenesis is a powerful technique to identify genes regulating mammalian development. To functionally annotate the distal region of mouse chromosome 4, we performed an ENU-mutagenesis screen using a balancer...
Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin.
Melissa K Boles, Bonney M Wilkinson, Laurens G Wilming, Bin Liu, Frank J Probst, Jennifer Harrow, Darren Grafham, Kathryn E Hentges, Lanette P Woodward, Andrea Maxwell, Karen Mitchell, Michael D Risley, Randy Johnson, Karen Hirschi, James R Lupski, Yosuke Funato, Hiroaki Miki, Pablo Marin-Garcia, Lucy Matthews, Alison J Coffey, Anne Parker, Tim J Hubbard, Jane Rogers, Allan Bradley, David J Adams, Monica J Justice
Oct 14, 2020
An accurate and precisely annotated genome assembly is a fundamental requirement for functional genomic analysis. Here, the complete DNA sequence and gene annotation of mouse Chromosome 11 was used to test the efficacy of...
Trade-offs in the genetic control of functional and nutritional quality traits in UK winter wheat.
A complex network of trade-offs exists between wheat quality and nutritional traits. We investigated the correlated relationships among several milling and baking traits as well as mineral density in refined white and whole...
TobEA
Kieron D Edwards, Aureliano Bombarely, Geraint W Story, Fraser Allen, Lukas A Mueller, Steve A Coates, Louise Jones
Jun 16, 2011
Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.
Alexander Teumer, Yong Li, Sahar Ghasemi, Bram P Prins, Matthias Wuttke, Tobias Hermle, Ayush Giri, Karsten B Sieber, Chengxiang Qiu, Holger Kirsten, Adrienne Tin, Audrey Y Chu, Nisha Bansal, Mary F Feitosa, Lihua Wang, Jin-Fang Chai, Massimiliano Cocca, Christian Fuchsberger, Mathias Gorski, Anselm Hoppmann, Katrin Horn, Man Li, Jonathan Marten, Damia Noce, Teresa Nutile, Sanaz Sedaghat, Gardar Sveinbjornsson, Bamidele O Tayo, Peter J van der Most, Yizhe Xu, Zhi Yu, Lea Gerstner, Johan Ärnlöv, Stephan JL Bakker, Daniela Baptista, Mary L Biggs, Eric Boerwinkle, Hermann Brenner, Ralph Burkhardt, Robert J Carroll, Miao-Li Chee, Miao-Ling Chee, Mengmeng Chen, Ching-Yu Cheng, James P Cook, Josef Coresh, Tanguy Corre, John Danesh, Martin H de Borst, Alessandro De Grandi, Renée de Mutsert, Aiko PJ de Vries, Frauke Degenhardt, Katalin Dittrich, Jasmin Divers, Kai-Uwe Eckardt, Georg Ehret, Karlhans Endlich, Janine F Felix, Oscar H Franco, Andre Franke, Barry I Freedman, Sandra Freitag-Wolf, Ron T Gansevoort, Vilmantas Giedraitis, Martin Gögele, Franziska Grundner-Culemann, Daniel F Gudbjartsson, Vilmundur Gudnason, Pavel Hamet, Tamara B Harris, Andrew A Hicks, Hilma Holm, Valencia Hui Xian Foo, Shih-Jen Hwang, M Arfan Ikram, Erik Ingelsson, Vincent WV Jaddoe, Johanna Jakobsdottir, Navya Shilpa Josyula, Bettina Jung, Mika Kähönen, Chiea-Chuen Khor, Wieland Kiess, Wolfgang Koenig, Antje Körner, Peter Kovacs, Holly Kramer, Bernhard K Krämer, Florian Kronenberg, Leslie A Lange, Carl D Langefeld, Jeannette Jen-Mai Lee, Terho Lehtimäki, Wolfgang Lieb, Su-Chi Lim, Lars Lind, Cecilia M Lindgren, Jianjun Liu, Markus Loeffler, Leo-Pekka Lyytikäinen, Anubha Mahajan, Joseph C Maranville, Deborah Mascalzoni, Barbara McMullen, Christa Meisinger, Thomas Meitinger, Kozeta Miliku, Dennis O Mook-Kanamori, Martina Müller-Nurasyid, Josyf C Mychaleckyj, Matthias Nauck, Kjell Nikus, Boting Ning, Raymond Noordam, Jeffrey O' Connell, Isleifur Olafsson, Nicholette D Palmer, Annette Peters, Anna I Podgornaia, Belen Ponte, Tanja Poulain, Peter P Pramstaller, Ton J Rabelink, Laura M Raffield, Dermot F Reilly, Rainer Rettig, Myriam Rheinberger, Kenneth M Rice, Fernando Rivadeneira, Heiko Runz, Kathleen A Ryan, Charumathi Sabanayagam, Kai-Uwe Saum, Ben Schöttker, Christian M Shaffer, Yuan Shi, Albert V Smith, Konstantin Strauch, Michael Stumvoll, Benjamin B Sun, Silke Szymczak, E-Shyong Tai, Nicholas YQ Tan, Kent D Taylor, Andrej Teren, Yih-Chung Tham, Joachim Thiery, Chris HL Thio, Hauke Thomsen, Unnur Thorsteinsdottir, Anke Tönjes, Johanne Tremblay, André G Uitterlinden, Pim van der Harst, Niek Verweij, Suzanne Vogelezang, Uwe Völker, Melanie Waldenberger, Chaolong Wang, Otis D Wilson, Charlene Wong, Tien-Yin Wong, Qiong Yang, Masayuki Yasuda, Shreeram Akilesh, Murielle Bochud, Carsten A Böger, Olivier Devuyst, Todd L Edwards, Kevin Ho, Andrew P Morris, Afshin Parsa, Sarah A Pendergrass, Bruce M Psaty, Jerome I Rotter, Kari Stefansson, James G Wilson, Katalin Susztak, Harold Snieder, Iris M Heid, Markus Scholz, Adam S Butterworth, Adriana M Hung, Cristian Pattaro, Anna Köttgen
Jul 08, 2019
Host-pathogen coevolution increases genetic variation in susceptibility to infection
Elizabeth ML Duxbury, Jonathan P Day, Davide Maria Vespasiani, Yannik Thüringer, Ignacio Tolosana, Sophia CL Smith, Lucia Tagliaferri, Altug Kamacioglu, Imogen Lindsley, Luca Love, Robert L Unckless, Francis Jiggins, Ben Longdon
Apr 26, 2019
It is common to find considerable genetic variation in susceptibility to infection in natural populations. We have investigated whether natural selection increases this variation by testing whether host populations show more...
D. melanogaster Drosophila coevolution evolutionary biology sigma virus Virus viruses Alleles Animals Chromosome Mapping Disease Resistance Disease Susceptibility Drosophila melanogaster Female Genes Insect genetic variation Host-Pathogen Interactions Infections Male Polymorphism Genetic rhabdoviridae Rhabdoviridae Infections selection Genetic Species Specificity Viral Load
LINE retrotransposons characterize mammalian tissue-specific and evolutionarily dynamic regulatory regions.
Maša Roller, Ericca Stamper, Diego Villar, Osagie Izuogu, Fergal Martin, Aisling M Redmond, Raghavendra Ramachanderan, Louise Harewood, Duncan T Odom, Paul Flicek
Feb 18, 2021
Enhancers Gene regulation LINE L1 LINE L2 Long Interspersed Nuclear Elements (LINEs) Mammals Promoters regulatory evolution transposable elements Animals Chromosome Mapping Conserved Sequence Enhancer Elements Genetic evolution Molecular Gene Expression Regulation Humans Long Interspersed Nucleotide Elements Mammals Organ Specificity Promoter Regions Genetic Regulatory Sequences Nucleic Acid Retroelements
Direct observation of the gene organization of the complement C4 and 21-hydroxylase loci by pulsed field gel electrophoresis.
Pulsed field gel electrophoresis and enzymes that cut genomic DNA infrequently have been used to define large RFLPs at the human C4 loci. With the enzymes BssH II or Sac II, and C4 or 21-hydroxylase DNA probes, it has been...
Chromosomal evolution and phylogenetic considerations in cuckoos (Aves, Cuculiformes, Cuculidae).
Michelly da Silva dos Santos, Rafael Kretschmer, Ivanete de Oliveira Furo, Ricardo José Gunski, Analía Del Valle Garnero, Mirela Pelizaro Valeri, Patricia CM O'Brien, Malcolm A Ferguson-Smith, Edivaldo Herculano Corrêa de Oliveira
Jul 06, 2020
The Cuckoos have a long history of difficult classification. The species of this order have been the subject of several studies based on osteology, behavior, ecology, morphology and molecular data. Despite this, the relationship...
Single-molecule analysis of genome rearrangements in cancer.
Jessica CM Pole, Frank McCaughan, Scott Newman, Karen D Howarth, Paul H Dear, Paul AW Edwards
May 09, 2019
Rearrangements of the genome can be detected by microarray methods and massively parallel sequencing, which identify copy-number alterations and breakpoint junctions, but these techniques are poorly suited to reconstructing the...
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