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Results: 22
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...
High-density mapping of the MHC identifies a shared role for HLA-DRB1*01
Philippe Goyette, Gabrielle Boucher, Dermot Mallon, Eva Ellinghaus, Luke Jostins, Hailiang Huang, Stephan Ripke, Elena S Gusareva, Vito Annese, Stephen L Hauser, Jorge R Oksenberg, Ingo Thomsen, Stephen Leslie, International Inflammatory Bowel Disease Genetics Consortium, Australia and New Zealand IBDGC, Belgium IBD Genetics Consortium, Italian Group for IBD Genetic Consortium, NIDDK Inflammatory Bowel Disease Genetics Consortium, United Kingdom IBDGC, Wellcome Trust Case Control Consortium, Quebec IBD Genetics Consortium, Mark J Daly, Kristel Van Steen, Richard H Duerr, Jeffrey C Barrett, Dermot PB McGovern, L Philip Schumm, James A Traherne, Mary N Carrington, Vasilis Kosmoliaptsis, Tom H Karlsen, Andre Franke, John D Rioux
Aug 11, 2015
Alleles Chromosome Mapping Colitis Ulcerative Crohn Disease Genetic Linkage Genetic Predisposition to Disease Genome-Wide Association Study Genotype Genotyping Techniques HLA-DRB1 Chains Heterozygote Humans Inflammatory Bowel Diseases Major Histocompatibility Complex Phenotype Polymorphism Single Nucleotide
Major Improvements to the Heliconius melpomene Genome Assembly Used to Confirm 10 Chromosome Fusion Events in 6 Million Years of Butterfly Evolution.
John W Davey, Mathieu Chouteau, Sarah L Barker, Luana Maroja, Simon W Baxter, Fraser Simpson, Richard M Merrill, Mathieu Joron, James Mallet, Kanchon K Dasmahapatra, Chris D Jiggins
Jan 27, 2016
Eueides Heliconius chromosome fusions genome assembly linkage mapping Animals Butterflies Chromosome Mapping Chromosomes Insect Computational Biology evolution Molecular Female Genetic Linkage Genetic Loci Genome Size Genome Insect Genomics Haplotypes High-Throughput Nucleotide Sequencing hybridization Genetic Male Molecular Sequence Annotation Polymorphism Single Nucleotide
Polymorphism discovery and association analyses of the interferon genes in type 1 diabetes.
Gerard AJ Morris, Christopher E Lowe, Jason D Cooper, Felicity Payne, Adrian Vella, Lisa Godfrey, John S Hulme, Neil M Walker, Barry C Healy, Alex C Lam, Paul A Lyons, John A Todd
Jun 16, 2011
Autoimmune Diseases Databases Genetic Diabetes mellitus Type 1 Exons Family Health Female Genetic Linkage Genetic Predisposition to Disease Humans Interferon Type I Interferon-alpha Interferon-beta Interferon-gamma Interferons Linkage Disequilibrium Male Models Statistical Multigene Family Polymorphism Genetic Polymorphism Single Nucleotide Sequence Analysis DNA
Genetic analysis of wheat sensitivity to the ToxB fungal effector from Pyrenophora tritici-repentis, the causal agent of tan spot.
Beatrice Corsi, Lawrence Percival-Alwyn, Rowena C Downie, Luca Venturini, Elyce M Iagallo, Camila Campos Mantello, Charlie McCormick-Barnes, Pao Theen See, Richard P Oliver, Caroline S Moffat, James Cockram
Jan 07, 2021
Genetic mapping of sensitivity to the Pyrenophora tritici-repentis effector ToxB allowed development of a diagnostic genetic marker, and investigation of wheat pedigrees allowed transmission of sensitive alleles to be tracked....
Impulsivity is a heritable trait in rodents and associated with a novel quantitative trait locus on chromosome 1.
Bianca Jupp, Silvia Pitzoi, Enrico Petretto, Adam C Mar, Yolanda Pena Oliver, Emily R Jordan, Stephanie Taylor, Santosh S Atanur, Prashant K Srivastava, Kathrin Saar, Norbert Hubner, Wolfgang H Sommer, Oliver Staehlin, Rainer Spanagel, Emma S Robinson, Gunter Schumann, Margarita Moreno, Barry J Everitt, Trevor W Robbins, Timothy J Aitman, Jeffrey W Dalley
Apr 02, 2020
Large-scale sequencing of SARS-CoV-2 genomes from one region allows detailed epidemiology and enables local outbreak management.
Andrew J Page, Alison E Mather, Thanh Le-Viet, Emma J Meader, Nabil-Fareed Alikhan, Gemma L Kay, Leonardo de Oliveira Martins, Alp Aydin, David J Baker, Alexander J Trotter, Steven Rudder, Ana P Tedim, Anastasia Kolyva, Rachael Stanley, Muhammad Yasir, Maria Diaz, Will Potter, Claire Stuart, Lizzie Meadows, Andrew Bell, Ana Victoria Gutierrez, Nicholas M Thomson, Evelien M Adriaenssens, Tracey Swingler, Rachel AJ Gilroy, Luke Griffith, Dheeraj K Sethi, Dinesh Aggarwal, Colin S Brown, Rose K Davidson, Robert A Kingsley, Luke Bedford, Lindsay J Coupland, Ian G Charles, Ngozi Elumogo, John Wain, Reenesh Prakash, Mark A Webber, SJ Louise Smith, Meera Chand, Samir Dervisevic, Justin O'Grady, The Covid-Genomics Uk Cog-Uk Consortium
Jul 08, 2021
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
Neringa Jurkute, Costin Leu, Hans-Martin Pogoda, Gavin Arno, Anthony G Robson, Gudrun Nürnberg, Janine Altmüller, Holger Thiele, Susanne Motameny, Mohammad Reza Toliat, Kate Powell, Wolfgang Höhne, Michel Michaelides, Andrew R Webster, Anthony T Moore, Matthias Hammerschmidt, Peter Nürnberg, Patrick Yu-Wai-Man, Marcela Votruba
Jul 26, 2019
OBJECTIVE: Autosomal dominant optic atrophy (ADOA) starts in early childhood with loss of visual acuity and color vision deficits. OPA1 mutations are responsible for the majority of cases, but in a portion of patients with a...
Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families.
Joan E Bailey-Wilson, Erica J Childs, Cheryl D Cropp, Daniel J Schaid, Jianfeng Xu, Nicola J Camp, Lisa A Cannon-Albright, James M Farnham, Asha George, Isaac Powell, John D Carpten, Graham G Giles, John L Hopper, Gianluca Severi, Dallas R English, William D Foulkes, Lovise Mæhle, Pål Møller, Rosalind Eeles, Douglas Easton, Michelle Guy, Steve Edwards, Michael D Badzioch, Alice S Whittemore, Ingrid Oakley-Girvan, Chih-Lin Hsieh, Latchezar Dimitrov, Janet L Stanford, Danielle M Karyadi, Kerry Deutsch, Laura McIntosh, Elaine A Ostrander, Kathleen E Wiley, Sarah D Isaacs, Patrick C Walsh, Stephen N Thibodeau, Shannon K McDonnell, Scott Hebbring, Ethan M Lange, Kathleen A Cooney, Teuvo LJ Tammela, Johanna Schleutker, Christiane Maier, Sylvia Bochum, Josef Hoegel, Henrik Grönberg, Fredrik Wiklund, Monica Emanuelsson, Geraldine Cancel-Tassin, Antoine Valeri, Olivier Cussenot, William B Isaacs, International Consortium for Prostate Cancer Genetics
Nov 12, 2012
Master regulators of FGFR2 signalling and breast cancer risk.
Michael NC Fletcher, Mauro AA Castro, Xin Wang, Ines de Santiago, Martin O'Reilly, Suet-Feung Chin, Oscar M Rueda, Carlos Caldas, Bruce AJ Ponder, Florian Markowetz, Kerstin B Meyer
Sep 10, 2014
Breast Neoplasms Female Gene Expression Profiling Gene Expression Regulation Neoplastic Gene Regulatory Networks Genetic Linkage Genetic Loci Genetic Predisposition to Disease Humans MCF-7 Cells Polymorphism Single Nucleotide Receptor Fibroblast Growth Factor Type 2 Regulon Reproducibility of Results Risk Factors Signal Transduction Transcription Genetic
The genetic basis of variation in clean lineages of Saccharomyces cerevisiae in response to stresses encountered during bioethanol fermentations.
Darren Greetham, Tithira T Wimalasena, Kay Leung, Marcus E Marvin, Yogeshwar Chandelia, Andrew J Hart, Trevor G Phister, Gregory A Tucker, Edward J Louis, Katherine A Smart
Jul 29, 2020
Saccharomyces cerevisiae is the micro-organism of choice for the conversion of monomeric sugars into bioethanol. Industrial bioethanol fermentations are intrinsically stressful environments for yeast and the adaptive protective...
Adaptation Biological Alleles Base Sequence Chromosome Mapping Chromosomes Fungal Crosses Genetic Ethanol Fermentation Genetic Linkage genetic variation Haploidy Heterozygote Molecular Sequence Data Phenotype Quantitative Trait Loci Saccharomyces cerevisiae Saccharomyces cerevisiae Proteins Sequence Alignment Stress Physiological
Whole-chromosome hitchhiking driven by a male-killing endosymbiont.
Simon H Martin, Kumar Saurabh Singh, Ian J Gordon, Kennedy Saitoti Omufwoko, Steve Collins, Ian A Warren, Hannah Munby, Oskar Brattström, Walther Traut, Dino J Martins, David AS Smith, Chris D Jiggins, Chris Bass, Richard H ffrench-Constant
Apr 14, 2020
Neo-sex chromosomes are found in many taxa, but the forces driving their emergence and spread are poorly understood. The female-specific neo-W chromosome of the African monarch (or queen) butterfly Danaus chrysippus presents an...
The population growth consequences of variation in individual heterozygosity.
Martina MI Di Fonzo, Fanie Pelletier, TH Clutton-Brock, Josephine M Pemberton, Tim Coulson
Jan 23, 2018
Heterozygosity has been associated with components of fitness in numerous studies across a wide range of taxa. Because heterozygosity is associated with individual performance it is also expected to be associated with population...
A novel COL4A1 frameshift mutation in familial kidney disease
Daniel P Gale, D Deren Oygar, Fujun Lin, P Derin Oygar, Nadia Khan, Thomas MF Connor, Marta Lapsley, Patrick H Maxwell, Guy H Neild
Mar 18, 2019
BACKGROUND: Hereditary microscopic haematuria often segregates with mutations of COL4A3, COL4A4 or COL4A5 but in half of families a gene is not identified. We investigated a Cypriot family with autosomal dominant microscopic...
A Dense Linkage Map of Lake Victoria Cichlids Improved the Pundamilia Genome Assembly and Revealed a Major QTL for Sex-Determination.
Genetic linkage maps are essential for comparative genomics, high quality genome sequence assembly and fine scale quantitative trait locus (QTL) mapping. In the present study we identified and genotyped markers via...
Cichlidae Genetics of Sex RAD XY system amh recombination rate sex chromosome evolution sex determination Synteny Animals Chromosome Mapping Cichlids Databases Genetic evolution Molecular Genetic Linkage Genetic Markers Genomics Genotype High-Throughput Nucleotide Sequencing lakes Quantitative Trait Loci Recombination Genetic Sex Determination Processes Synteny
Development of an integrated genome informatics, data management and workflow infrastructure
Oliver S Burren, Barry C Healy, Alex C Lam, Helen Schuilenburg, Geoffrey E Dolman, Vincent H Everett, Davide Laneri, Sarah Nutland, Helen E Rance, Felicity Payne, Deborah Smyth, Chris Lowe, Bryan J Barratt, Rebecca CJ Twells, Daniel B Rainbow, Linda S Wicker, John A Todd, Neil M Walker, Luc J Smink
Jul 27, 2012
Animals Chromosome Mapping Chromosomes Human Computational Biology Database Management Systems Databases Factual Diabetes mellitus Type 1 Disease Models Animal Genetic Diseases Inborn Genetic Linkage Genome Genome Human Humans Informatics Information Storage and Retrieval Information Systems Models Biological Models Genetic Polymorphism Single Nucleotide Quality Control Sequence Analysis DNA
Mutations in mitochondrial DNA causing tubulointerstitial kidney disease
TM Connor, S Hoer, A Mallett, DP Gale, A Gomez Duran, V Posse, R Antrobus, P Moreno, M Sciacovelli, C Frezza, J Duff, NS Sheerin, JA Sayer, M Ashcroft, MS Wiesener, G Hudson, CM Gustafsson, PF Chinnery, PH Maxwell
May 24, 2017