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1. Full Text New genetic loci link adipose and insulin biology to body fat distribution
by Shungin, Dmitry and Winkler, Thomas W and Croteau-Chonka, Damien C and Ferreira, Teresa and Locke, Adam E and Mägi, Reedik and Strawbridge, Rona J and Pers, Tune H and Fischer, Krista and Justice, Anne E and Workalemahu, Tsegaselassie and Wu, Joseph M. W and Buchkovich, Martin L and Heard-Costa, Nancy L and Roman, Tamara S and ng, Alexander W and Song, Ci and Gustafsson, Stefan and Day, Felix R and Esko, Tonu and Fall, Tove and Kutalik, Zoltán and Luan, Jian'an and Randall, Joshua C and Scherag, Ané and Vedantam, Sailaja and Wood, Anew R and Chen, Jin and Fehrmann, Rudolf and Karjalainen, Juha and Kahali, Bratati and Liu, Ching-Ti and Schmidt, Ellen M and Absher, Devin and Amin, Najaf and Anderson, Denise and Beekman, Marian and Bragg-Gresham, Jennifer L and Buyske, Steven and Demirkan, Ayse and Ehret, Georg B and Feitosa, Mary F and Goel, Anuj and Jackson, Anne U and Johnson, Toby and Kleber, Marcus E and Kristiansson, Kati and Mangino, Massimo and Mateo Leach, Irene and Medina-Gomez, Carolina and Palmer, Cameron D and Pasko, Dorota and Pechlivanis, Sonali and Peters, Marjolein J and Prokopenko, Inga and Stančáková, Alena and Ju Sung, Yun and Tanaka, Toshiko and Teumer, Alexander and van Vliet-Ostaptchouk, Jana V and Yengo, Loïc and Zhang, Weihua and Albrecht, Eva and Ärnlöv, Johan and Arscott, Gillian M and Bandinelli, Stefania and Barrett, Amy and Bellis, Claire and Bennett, Amanda J and Berne, Christian and Blüher, Matthias and Böhringer, Stefan and Bonnet, Fabrice and Böttcher, Yvonne and Bruinenberg, Marcel and Carba, Delia B and Caspersen, Ida H and Clarke, Robert and Daw, E. Warwick and Deelen, Joris and Deelman, Ewa and Delgado, Graciela and Doney, Alex S. F and Eklund, Niina and Erdos, Michael R and Estrada, Karol and Eury, Elodie and Frieich, Nele and Garcia, Melissa E and Gieaitis, Vilmantas and Gigante, Bruna and Go, Alan S and Golay, Alain and Grallert, Harald and Grammer, Tanja B and Gräßler, Jürgen and Grewal, Jagvir and Groves, Christopher J and Haller, Toomas and Hallmans, Goran and ... and PAGE Consortium and LifeLines Cohort Study and CARDIOGRAMplusC4D Consortium and MuTHER Consortium and ICBP and ADIPOGEN Consortium and CKDGen Consortium and GEFOS Consortium and Int Endogene Consortium and GENIE Consortium and MAGIC Investigators and ReproGen Consortium and GLGC and ADIPOGen Consortium and International Endogene Consortium and The PAGE Consortium and The International Endogene Consortium and The MAGIC Investigators and The ReproGen Consortium and The CKDGen Consortium and The ADIPOGen Consortium and The ICBP and The CARDIOGRAMplusC4D Consortium and The GENIE Consortium and The GLGC and The GEFOS Consortium and The MuTHER Consortium and The LifeLines Cohort Study and Högskolan Dalarna and Akademin Utbildning, hälsa och samhälle and Medicinsk vetenskap
Nature, ISSN 0028-0836, 2015, Volume 518, Issue 7538, pp. 187 - U378
Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our... 
HUMAN HEIGHT | ABDOMINAL ADIPOSITY | MULTIDISCIPLINARY SCIENCES | COMMON SNPS | SUSCEPTIBILITY LOCI | GLYCEMIC TRAITS | FALSE DISCOVERY | MESENCHYMAL STEM-CELLS | GENOME-WIDE ASSOCIATION | ADIPOGENIC DIFFERENTIATION | SEXUAL-DIMORPHISM | Body Mass Index | Genome-Wide Association Study | Age Factors | Neovascularization, Physiologic - genetics | Epigenesis, Genetic | Humans | Male | Continental Population Groups - genetics | Sex Characteristics | Obesity - genetics | Europe - ethnology | Genome, Human - genetics | Adipose Tissue - metabolism | Insulin - metabolism | Models, Biological | Adipocytes - metabolism | Insulin Resistance - genetics | Polymorphism, Single Nucleotide - genetics | Female | Body Fat Distribution | Transcription, Genetic - genetics | Adipogenesis - genetics | Waist-Hip Ratio | Quantitative Trait Loci - genetics | Adipose tissues | Quantitative trait loci | Genetic research | Genetic aspects | Research | Metabolism | Health aspects | Studies | Body mass index | Genealogy | Body fat | Insulin resistance | Genetics | Genomes | Abdomen | Meta-analysis | Life Sciences | Adipocytes/metabolism Adipogenesis/genetics Adipose Tissue/metabolism Age Factors Body Fat Distribution Body Mass Index Continental Population Groups/genetics Epigenesis, Genetic Europe/ethnology Female Genome, Human/genetics Genome-Wide Association Study Humans Insulin/metabolism Insulin Resistance/genetics Male Models, Biological Neovascularization, Physiologic/genetics Obesity/genetics Polymorphism, Single Nucleotide/genetics Quantitative Trait Loci/genetics Sex Characteristics Transcription, Genetic/genetics Waist-Hip Ratio | Clinical Medicine | Hälsa och välfärd | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap | Health and Welfare
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2. Full Text Chromatin loop anchors are associated with genome instability in cancer and recombination hotspots in the germline
by Kaiser, Vera B and Semple, Colin A
Genome Biology, ISSN 1474-7596, 07/2018, Volume 19, Issue 1, pp. 101 - 14
Background: Chromatin loops form a basic unit of interphase nuclear organization, with chromatin loop anchor points providing contacts between regulatory... 
Recombination | Chromatin loops | Hi-C | DNA breakage | Cancer | MUTATIONAL SIGNATURES | DNA-DAMAGE REPAIR | COHESIN | CTCF | REARRANGEMENTS | BREAST-CANCER | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | FRAGILE SITES | DOMAINS | MEIOTIC RECOMBINATION | REVEALS | Breakpoints | Chromatin | Leukemia | Genomes | Meiosis | Breast cancer | Regulatory sequences | Boundaries | Gene expression | DNA repair | Genomic instability | Fragile sites | Cell lines | Cell cycle | DNA methylation | Mutation | Genetic recombination | Bioinformatics | Binding sites | Deoxyribonucleic acid--DNA | Tumors
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3. Full Text The UK's pandemic influenza research portfolio: a model for future research on emerging infections
by Simpson, Colin R and Beever, Dan and Challen, Kirsty and De Angelis, Daniela and Fragaszy, Ellen and Goodacre, Steve and Hayward, Andrew and Lim, Wei Shen and Rubin, G James and Semple, Malcolm G and Knight, Marian and NIHR Hibernated Influenza Studie and NIHR hibernated influenza studies collaborative group
The Lancet Infectious Diseases, ISSN 1473-3099, 08/2019, Volume 19, Issue 8, pp. e295 - e300
The 2009 influenza A H1N1 pandemic was responsible for considerable global morbidity and mortality. In 2009, several research studies in the UK were rapidly... 
OUTBREAK | INFECTIOUS DISEASES | VACCINE | Epidemics | Medical research | Mortality | Swine influenza | Medicine, Experimental | Research institutes | Health aspects | Epidemiology | Studies | Immunization | Pandemics | Womens health | Data acquisition | Influenza | Data collection | Influenza A | Activation | Vaccines | Public health | Morbidity
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4. Full Text The circadian dynamics of small nucleolar RNA in the mouse liver
by Aitken, Stuart and Semple, Colin A
Journal of the Royal Society Interface, ISSN 1742-5689, 05/2017, Volume 14, Issue 130, pp. 20170034 - 20170034
The circadian regulation of gene expression allows plants and animals to anticipate predictable environmental changes. While the influence of the circadian... 
Circadian rhythms | RNA dynamics | Small nucleolar RNA | Non-coding RNA | BOX C/D | non-coding RNA | BIOGENESIS | MULTIDISCIPLINARY SCIENCES | BIOLOGY | MODEL | circadian rhythms | SNORNAS | CLOCK | small nucleolar RNA | Animals | Models, Biological | Liver - metabolism | Gene Expression Regulation - physiology | RNA, Ribosomal, 28S - biosynthesis | Circadian Rhythm - physiology | Mice | RNA, Ribosomal, 18S - biosynthesis | RNA, Small Nuclear - biosynthesis | RNA modification | Plants (botany) | rRNA 28S | Maturation | Liver | Environmental changes | Abundance | Biosynthesis | Circadian rhythm | Gene expression | Ribonucleic acid--RNA | DNA-directed RNA polymerase | Diurnal | snoRNA | Gene sequencing | Polymerase | Nucleoli | Transcription activation | Computer applications | Regulatory mechanisms (biology) | rRNA 18S | RNA polymerase II | 1004 | 181 | Life Sciences–Mathematics interface
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5. Full Text A high-resolution anatomical atlas of the transcriptome in the mouse embryo
by Diez-Roux, Graciana and Banfi, Sandro and Sultan, Marc and Geffers, Lars and Anand, Santosh and Rozado, David and Magen, Alon and Canidio, Elena and Pagani, Massimiliano and Peluso, Ivana and Lin-Marq, Nathalie and Koch, Muriel and Bilio, Marchesa and Cantiello, Immacolata and Verde, Roberta and de Masi, Cristian and Bianchi, Salvatore A and Cicchini, Juliette and Perroud, Elodie and Mehmeti, Shprese and Dagand, Emilie and Schrinner, Sabine and Nürnberger, Asja and Schmidt, Katja and Metz, Katja and Zwingmann, Christina and Brieske, Norbert and Springer, Cindy and Hernandez, Ana Martinez and Herzog, Sarah and Grabbe, Frauke and Sieverding, Cornelia and Fischer, Barbara and Schrader, Kathrin and Brockmeyer, Maren and Dettmer, Sarah and Helbig, Christin and Alunni, Violaine and Battaini, Marie-Annick and Mura, Carole and Henrichsen, Charlotte N and Garcia-Lopez, Raquel and Echevarria, Diego and Puelles, Eduardo and Garcia-Calero, Elena and Kruse, Stefan and Uhr, Markus and Kauck, Christine and Feng, Guangjie and Milyaev, Nestor and Ong, Chuang Kee and Kumar, Lalit and Lam, MeiSze and Semple, Colin A and Gyenesei, Attila and Mundlos, Stefan and Radelof, Uwe and Lehrach, Hans and Sarmientos, Paolo and Reymond, Alexandre and Davidson, Duncan R and Dollé, Pascal and Antonarakis, Stylianos E and Yaspo, Marie-Laure and Martinez, Salvador and Baldock, Richard A and Eichele, Gregor and Ballabio, Andrea
PLoS Biology, ISSN 1544-9173, 2011, Volume 9, Issue 1, p. e1000582
Ascertaining when and where genes are expressed is of crucial importance to understanding or predicting the physiological role of genes and proteins and how... 
NERVOUS-SYSTEM | FOREBRAIN | PROSOMERIC MODEL | DATABASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENE-EXPRESSION PATTERNS | BIOLOGY | MECHANISMS | KIDNEY | WNT | VIEW | BRAIN | Mice - anatomy & histology | Mice - genetics | Animals | Atlases as Topic | Embryo, Mammalian | Mice, Inbred C57BL | Databases, Genetic | Gene Expression Profiling | Internet | Organ Specificity | Mice - embryology | Proteins | Brain research | Disease | Ontology | Rodents | Technological change | Genetics | Genomes | Gene expression | Life Sciences | Mice | Development Biology
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6. Full Text Mutational Biases Drive Elevated Rates of Substitution at Regulatory Sites across Cancer Types
by Kaiser, Vera B and Taylor, Martin S and Semple, Colin A
PLoS Genetics, ISSN 1553-7390, 08/2016, Volume 12, Issue 8, pp. e1006207 - e1006207
Disruption of gene regulation is known to play major roles in carcinogenesis and tumour progression. Here, we comprehensively characterize the mutational... 
REPAIR | HUMAN GENOME | LANDSCAPE | SHAPES | DNA | SEQUENCE | REGIONS | GENETICS & HEREDITY | CHROMATIN ORGANIZATION | TUMOR TYPES | BINDING | Neoplasms - metabolism | Humans | Regulatory Sequences, Nucleic Acid | Carcinogenesis - genetics | Gene Expression Regulation, Neoplastic | Repressor Proteins - genetics | Binding Sites - genetics | Transcription Factors - genetics | Mutation - genetics | Transcription Factors - metabolism | Neoplasms - genetics | CCCTC-Binding Factor | Protein Binding | Genome, Human | Repressor Proteins - metabolism | Gene mutations | Genetic aspects | Genetic regulation | Health aspects | Carcinogenesis | Identification and classification | Binding sites (Biochemistry) | Studies | Consortia | Datasets | Transcription factors | Funding | Genes | Genomes | Mutation | Binding sites | Tumors | Cancer | Index Medicus
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7. Full Text Side Effects: Substantial Non-Neutral Evolution Flanking Regulatory Sites
: e1003528
by James G D Prendergast and Colin A Semple
PLoS Genetics, ISSN 1553-7390, 05/2013, Volume 9, Issue 5
  In the pre-genome era, most of what we knew about molecular evolution could be traced to our knowledge of the genetic code, and the impact of DNA sequence... 
Proteins | Insects | Genomics | Genetics | Genomes | Deoxyribonucleic acid--DNA
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8. Full Text Breaking point: the genesis and impact of structural variation in tumours [version 1; peer review: 2 approved]
by Ewing, Ailith and Semple, Colin
F1000Research, ISSN 2046-1402, 2018, Volume 7, p. 1814
Somatic structural variants undoubtedly play important roles in driving tumourigenesis. This is evident despite the substantial technical challenges that... 
Mutational signatures | DNA double-strand breaks | Tumourigenesis | Whole genome sequencing | Structural variation | Cancer | Breakpoints | Chemotherapy | Mutagens | Genomics | Tumorigenesis | Genomes | Mutation | Kinases | Variation | Ovarian cancer | Tumors
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