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Lancet, The, ISSN 0140-6736, 2015, Volume 385, Issue 9975, pp. 1305 - 1314
Journal Article
Bioinformatics, ISSN 1367-4803, 12/2008, Volume 24, Issue 23, pp. 2672 - 2676
Motivation: Artemis and Artemis Comparison Tool (ACT) have become mainstream tools for viewing and annotating sequence data, particularly for microbial... 
STATISTICS & PROBABILITY | COMPUTER SCIENCE, INTERDISCIPLINARY APPLICATIONS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | BIOCHEMICAL RESEARCH METHODS | MATHEMATICAL & COMPUTATIONAL BIOLOGY | TOOL | Databases, Genetic | Software | Databases, Nucleic Acid | Genomics | Original Papers
Journal Article
by McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and De Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and Donaldson, Alan and Donnai, Dian and Donnelly, Deirdre and Donnelly, Carina and Douglas, Angela and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Ellis, Ian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Foulds, Nicola and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and ... and Deciphering Developmental Disorders Study
Nature, ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important... 
INTELLECTUAL DISABILITY | METAANALYSIS | VARIANTS | GENETICS | HEART-DEFECTS | MULTIDISCIPLINARY SCIENCES | GENES | SEQUENCE | FRAMEWORK | DISCOVERY | GENOME | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
Journal Article
Current Protocols in Bioinformatics, ISSN 1934-3396, 06/2019, Volume 66, Issue 1, p. e74
The European Bioinformatics Institute (EMBL-EBI) provides access to a wide range of core databases and analysis tools that are of key importance in... 
REST | web services | programmatic access | bioinformatics tools | bioinformatics resources | workflows | SOAP
Journal Article
NATURE, ISSN 0028-0836, 07/2009, Volume 460, Issue 7253, pp. 352 - U65
Journal Article
Nature Genetics, ISSN 1061-4036, 07/2007, Volume 39, Issue 7, pp. 839 - 847
Journal Article
Nucleic acids research, ISSN 0305-1048, 07/2019, Volume 47, Issue W1, pp. W636 - W641
The EMBL-EBI provides free access to popular bioinformatics sequence analysis applications as well as to a full-featured text search engine with powerful... 
DATABASE | PERFORMANCE | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISCOVERY | Web Server Issue
Journal Article
by Matthew Berriman and Elodie Ghedin and Christiane Hertz-Fowler and Gaëlle Blandin and Hubert Renauld and Daniella C. Bartholomeu and Nicola J. Lennard and Elisabet Caler and Nancy E. Hamlin and Brian Haas and Ulrike Böhme and Linda Hannick and Martin A. Aslett and Joshua Shallom and Lucio Marcello and Lihua Hou and Bill Wickstead and U. Cecilia M. Alsmark and Claire Arrowsmith and Rebecca J. Atkin and Andrew J. Barron and Frederic Bringaud and Karen Brooks and Mark Carrington and Inna Cherevach and Tracey-Jane Chillingworth and Carol Churcher and Louise N. Clark and Craig H. Corton and Ann Cronin and Rob M. Davies and Jonathon Doggett and Appolinaire Djikeng and Tamara Feldblyum and Mark C. Field and Audrey Fraser and Ian Goodhead and Zahra Hance and David Harper and Barbara R. Harris and Heidi Hauser and Jessica Hostetler and Al Ivens and Kay Jagels and David Johnson and Justin Johnson and Kristine Jones and Arnaud X. Kerhornou and Hean Koo and Natasha Larke and Scott Landfear and Christopher Larkin and Vanessa Leech and Alexandra Line and Angela Lord and Annette MacLeod and Paul J. Mooney and Sharon Moule and David M. A. Martin and Gareth W. Morgan and Karen Mungall and Halina Norbertczak and Doug Ormond and Grace Pai and Chris S. Peacock and Jeremy Peterson and Michael A. Quail and Ester Rabbinowitsch and Marie-Adele Rajandream and Chris Reitter and Steven L. Salzberg and Mandy Sanders and Seth Schobel and Sarah Sharp and Mark Simmonds and Anjana J. Simpson and Luke Tallon and C. Michael R. Turner and Andrew Tait and Adrian R. Tivey and Susan Van Aken and Danielle Walker and David Wanless and Shiliang Wang and Brian White and Owen White and Sally Whitehead and John Woodward and Jennifer Wortman and Mark D. Adams and T. Martin Embley and Keith Gull and Elisabetta Ullu and J. David Barry and Alan H. Fairlamb and Fred Opperdoes and Barclay G. Barrell and John E. Donelson and Neil Hall and Claire M. Fraser and ...
Science, ISSN 0036-8075, 7/2005, Volume 309, Issue 5733, pp. 416 - 422
African trypanosomes cause human sleeping sickness and livestock trypanosomiasis in sub-Saharan Africa. We present the sequence and analysis of the 11... 
Enzymes | Pseudogenes | Genes | Actins | Cytoskeleton | Genomes | Parasitism | Research Articles | Parasites | Metabolism | Chromosomes | ANTIGENIC VARIATION | METABOLISM | MULTIDISCIPLINARY SCIENCES | SEQUENCE | GENES | PARASITIC PROTOZOA | SLEEPING SICKNESS | DRUG TARGET | LEISHMANIA-DONOVANI | CHEMOTHERAPY | TELOMERES | Antigens, Protozoan - immunology | Genome, Protozoan | Glycosylphosphatidylinositols - biosynthesis | Glutathione - metabolism | Humans | Spermidine - analogs & derivatives | Spermidine - metabolism | Molecular Sequence Data | Genes, Protozoan | Pyrimidines - biosynthesis | Protozoan Proteins - genetics | Trypanosoma brucei brucei - chemistry | Amino Acids - metabolism | Protozoan Proteins - metabolism | Chromosomes - genetics | Recombination, Genetic | Protozoan Proteins - chemistry | Antigens, Protozoan - genetics | Cytoskeleton - chemistry | Antigens, Protozoan - chemistry | Antigenic Variation | Glutathione - analogs & derivatives | Trypanosoma brucei brucei - metabolism | Purines - metabolism | Carbohydrate Metabolism | Cytoskeleton - genetics | Ergosterol - biosynthesis | Lipid Metabolism | Trypanosoma brucei brucei - genetics | Sequence Analysis, DNA | Protein Transport | Trypanosomiasis, African - parasitology | Animals | Cytoskeleton - physiology | Trypanosoma brucei brucei - immunology | Genetic aspects | Trypanosoma | Sleep disorders | Glycoproteins | Genomics
Journal Article
Science, ISSN 0036-8075, 7/2005, Volume 309, Issue 5731, pp. 131 - 133
Journal Article