Articles

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (119) 119
Publication (12) 12
Book Review (8) 8
Conference Proceeding (3) 3
Book Chapter (1) 1
Dissertation (1) 1
Magazine Article (1) 1
Newspaper Article (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (80) 80
humans (57) 57
animals (41) 41
mice (38) 38
genetics & heredity (36) 36
phenotype (36) 36
databases, genetic (30) 30
biochemistry & molecular biology (28) 28
genomics (24) 24
biotechnology & applied microbiology (21) 21
bioinformatics (18) 18
internet (18) 18
software (18) 18
genomes (17) 17
analysis (16) 16
article (16) 16
genetics (16) 16
computational biology (15) 15
mutation (15) 15
user-computer interface (15) 15
biology (14) 14
genes (14) 14
mathematical & computational biology (14) 14
mouse (14) 14
ontology (13) 13
research (13) 13
database (12) 12
disease (12) 12
resources (12) 12
cell biology (11) 11
computational biology - methods (11) 11
original (11) 11
gene expression (10) 10
genetic aspects (10) 10
genome (10) 10
genotype & phenotype (10) 10
medicine (10) 10
mutations (10) 10
resource (10) 10
variants (10) 10
female (9) 9
life sciences (9) 9
male (9) 9
original article (9) 9
phenotyping (9) 9
data bases (8) 8
database management systems (8) 8
databases (8) 8
disease - genetics (8) 8
genetic association studies (8) 8
mice, knockout (8) 8
molecular sequence data (8) 8
multidisciplinary sciences (8) 8
base sequence (7) 7
consortia (7) 7
disease models, animal (7) 7
identification (7) 7
methods (7) 7
phenotypes (7) 7
usage (7) 7
access (6) 6
algorithms (6) 6
amino acid sequence (6) 6
articles (6) 6
chromosome mapping (6) 6
discovery (6) 6
exome - genetics (6) 6
expression (6) 6
gene (6) 6
animal genetics (5) 5
animal models (5) 5
annotations (5) 5
association (5) 5
biochemical research methods (5) 5
biological ontologies (5) 5
genetic research (5) 5
genetic variation (5) 5
genomics - methods (5) 5
information dissemination (5) 5
molecular sequence annotation (5) 5
precision medicine (5) 5
project (5) 5
research article (5) 5
rodents (5) 5
species specificity (5) 5
tool (5) 5
translocation, genetic (5) 5
animal genetics and genomics (4) 4
biotechnology (4) 4
computational biology - trends (4) 4
computer science (4) 4
database issue (4) 4
diseases (4) 4
disorders (4) 4
dna (4) 4
exome sequencing (4) 4
genetic disorders (4) 4
genetic predisposition to disease (4) 4
genome-wide (4) 4
genome-wide association study (4) 4
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text BioMart Central Portal-unified access to biological data
by Haider, Syed and Ballester, Benoit and Smedley, Damian and Zhang, Junjun and Rice, Peter and Kasprzyk, Arek
Nucleic Acids Research, ISSN 0305-1048, 7/2009, Volume 37, Issue suppl_2, pp. W23 - W27
BioMart Central Portal (www.biomart.org) offers a one-stop shop solution to access a wide array of biological databases. These include major biomolecular... 
BIOCHEMISTRY & MOLECULAR BIOLOGY | RESOURCE | Databases, Genetic | User-Computer Interface | Biology | Software | Internet | Index Medicus | Bioinformatics | Computer Science
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text BioMart - Biological queries made easy
by Smedley, Damian and Haider, Syed and Ballester, Benoit and Holland, Richard and London, Darin and Thorisson, Gudmundur and Kasprzyk, Arek
BMC Genomics, ISSN 1471-2164, 01/2009, Volume 10, Issue 1, pp. 22 - 22
Background: Biologists need to perform complex queries, often across a variety of databases. Typically, each data resource provides an advanced query... 
DATABASE | GENE | INTEGRATION | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | MODEL | DATASETS | ACCESS | Databases, Genetic | User-Computer Interface | Computational Biology - methods | Internet | Database Management Systems | Biological complexity | Usage | Research | Applications software | Index Medicus | Bioinformatics | Computer Science
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. 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 | Index Medicus | Resource
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text Generation of silver standard concept annotations from Biomedical texts with special relevance to phenotypes
by Oellrich, Anika and Collier, Nigel and Smedley, Damian and Groza, Tudor
PLoS ONE, ISSN 1932-6203, 01/2015, Volume 10, Issue 1, pp. e0116040 - e0116040
Electronic health records and scientific articles possess differing linguistic characteristics that may impact the performance of natural language processing... 
RESOURCES | ONTOLOGY | SERVICES | MULTIDISCIPLINARY SCIENCES | Phenotype | Biological Ontologies | Humans | Natural Language Processing | Data Mining - standards | PubMed - standards | Electronic Health Records | Language processing | Computational linguistics | Analysis | Standards | Natural language interfaces | Dictionaries | Ontology | Disease | Clinical trials | Genomes | Data mining | Electronic medical records | Medical libraries | Proteins | Genotype & phenotype | Annotations | Library associations | Natural language | Natural language processing | Silver mines | Bioinformatics | Construction standards | Medical research | Automation | Genetic disorders | Information retrieval | Scientific papers | Silver | Quality assessment | Electronic health records | Health informatics | Recognition | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text Next-generation diagnostics and disease-gene discovery with the Exomiser
by Smedley, Damian and Jacobsen, Julius O.B and Jäger, Marten and Köhler, Sebastian and Holtgrewe, Manuel and Schubach, Max and Siragusa, Enrico and Zemojtel, Tomasz and Buske, Orion J and Washington, Nicole L and Bone, William P and Haendel, Melissa A and Robinson, Peter N
Nature Protocols, ISSN 1754-2189, 12/2015, Volume 10, Issue 12, pp. 2004 - 2015
Exomiser is an application that prioritizes genes and variants in next-generation sequencing (NGS) projects for novel disease-gene discovery or differential... 
EXOME | RARE DISEASES | VARIANTS | SEQUENCE DATA | CANDIDATE GENES | BIOCHEMICAL RESEARCH METHODS | NATIONAL CENTER | PRIORITIZATION | MENDELIAN DISEASES | HUMAN PHENOTYPE ONTOLOGY | SEMANTIC SIMILARITY | Exome | Software | High-Throughput Nucleotide Sequencing - methods | Genetic Testing - methods | Sequence Analysis, DNA - methods | Humans | Genetic disorders | Genes | Exome sequencing | Diagnosis | Health aspects | Identification and classification | Methods | Genetic screening | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease
by Smedley, Damian and Schubach, Max and Jacobsen, Julius O.B and Köhler, Sebastian and Zemojtel, Tomasz and Spielmann, Malte and Jäger, Marten and Hochheiser, Harry and Washington, Nicole L and McMurry, Julie A and Haendel, Melissa A and Mungall, Christopher J and Lewis, Suzanna E and Groza, Tudor and Valentini, Giorgio and Robinson, Peter N
The American Journal of Human Genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, pp. 595 - 606
The interpretation of non-coding variants still constitutes a major challenge in the application of whole-genome sequencing in Mendelian disease, especially... 
GENETIC-VARIATION | EXOME | SEQUENCE VARIATION | SEVERE INTELLECTUAL DISABILITY | DNA-SEQUENCE | GENETICS & HEREDITY | MODEL ORGANISM | DISORDERS | STRUCTURAL VARIATION | NONCODING VARIANTS | HUMAN PHENOTYPE | Point Mutation - genetics | Genome-Wide Association Study | Phenotype | Algorithms | Gene Frequency | Humans | Genetic Diseases, Inborn - genetics | Mutation - genetics | Open Reading Frames - genetics | Machine Learning | Genome, Human - genetics | Genotype & phenotype | Genomes | Biological variation | Simulation | Artificial intelligence | Chromosomes | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Full Text Disease model discovery from 3,328 gene knockouts by the International Mouse Phenotyping Consortium
by Meehan, Terrence F and Conte, Nathalie and West, David B and Jacobsen, Julius O and Mason, Jeremy and Warren, Jonathan and Chen, Chao-Kung and Tudose, Ilinca and Relac, Mike and Matthews, Peter and Karp, Natasha and Santos, Luis and Fiegel, Tanja and Ring, Natalie and Westerberg, Henrik and Greenaway, Simon and Sneddon, Duncan and Morgan, Hugh and Codner, Gemma F and Stewart, Michelle E and Brown, James and Horner, Neil and Haendel, Melissa and Washington, Nicole and Mungall, Christopher J and Reynolds, Corey L and Gallegos, Juan and Gailus-Durner, Valerie and Sorg, Tania and Pavlovic, Guillaume and Bower, Lynette R and Moore, Mark and Morse, Iva and Gao, Xiang and Tocchini-Valentini, Glauco P and Obata, Yuichi and Cho, Soo Young and Seong, Je Kyung and Seavitt, John and Beaudet, Arthur L and Dickinson, Mary E and Herault, Yann and Wurst, Wolfgang and De Angelis, Martin Hrabe and Kent Lloyd, K.C and Flenniken, Ann M and Nutter, Lauryl M J and Newbigging, Susan and McKerlie, Colin and Justice, Monica J and Murray, Stephen A and Svenson, Karen L and Braun, Robert E and White, Jacqueline K and Bradley, Allan and Flicek, Paul and Wells, Sara and Skarnes, William C and Adams, David J and Parkinson, Helen and Mallon, Ann-Marie and Brown, Steve D.M and Smedley, Damian and Int Mouse Phenotyping Consortium and International Mouse Phenotyping Consortium and The International Mouse Phenotyping Consortium
Nature Genetics, ISSN 1061-4036, 08/2017, Volume 49, Issue 8, pp. 1231 - 1238
Although next-generation sequencing has revolutionized the ability to associate variants with human diseases, diagnostic rates and development of new therapies... 
RESOURCES | DATABASE | GENETICS & HEREDITY | GENOME-WIDE | ONTOLOGY | MICE | GENERATION | EXPRESSION ATLAS | MUTATIONS | ASSOCIATION | ORGANISM | Genetic Predisposition to Disease | Phenotype | Animals | Humans | Female | Genetic Diseases, Inborn | Male | Mice | Gene Knockout Techniques | Disease Models, Animal | Mice, Knockout | Usage | Genetic aspects | Research | Animal models in research | Genomics | Heart | Animal models | Ontology | Disease | Genes | Disorders | Genomes | Statistical methods | Data bases | Gene sequencing | Consortia | Signal transduction | Annotations | Rodents | Right ventricular dysplasia | Dysplasia | Automation | Gene expression | Ventricular dysplasia | Diseases | Studies | Acids | Phenotyping | Diagnostic systems | Mutation | Ventricle | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
8. Full Text Ensembl's 10th year
by Flicek, Paul and Aken, Bronwen L and Ballester, Benoit and Beal, Kathryn and Bragin, Eugene and Brent, Simon and Chen, Yuan and Clapham, Peter and Coates, Guy and Fairley, Susan and Fitzgerald, Stephen and Fernandez-Banet, Julio and Gordon, Leo and Gräf, Stefan and Haider, Syed and Hammond, Martin and Howe, Kerstin and Jenkinson, Andrew and Johnson, Nathan and Kähäri, Andreas and Keefe, Damian and Keenan, Stephen and Kinsella, Rhoda and Kokocinski, Felix and Koscielny, Gautier and Kulesha, Eugene and Lawson, Daniel and Longden, Ian and Massingham, Tim and Mclaren, William and Megy, Karine and Overduin, Bert and Pritchard, Bethan and Rios, Daniel and Ruffier, Magali and Schuster, Michael and Slater, Guy and Smedley, Damian and Spudich, Giulietta and Tang, Y. Amy and Trevanion, Stephen and Vilella, Albert and Vogel, Jan and White, Simon and Wilder, Steven P and Zadissa, Amonida and Birney, Ewan and Cunningham, Fiona and Dunham, Ian and Durbin, Richard and Fernández-Suarez, Xosé M and Herrero, Javier and Hubbard, Tim J.P and Parker, Anne and Proctor, Glenn and Smith, James and Searle, Stephen M.J
Nucleic Acids Research, ISSN 0305-1048, 11/2009, Volume 38, Issue 1, pp. D557 - D562
Ensembl (http://www.ensembl.org) integrates genomic information for a comprehensive set of chordate genomes with a particular focus on resources for human,... 
PROJECT | DATABASE | ALIGNMENT | BIOMART | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENOME | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
9. Full Text EnsMart: A generic system for fast and flexible access to biological data
by Kasprzk, Arek and Keefe, Damian and Smedley, Damian and London, Darin and Spooner, William and Melsopp, Craig and Hammond, Martin and Rocca-Serra, Philippe and Cox, Tony and Birney, Ewan
Genome Research, ISSN 1088-9051, 01/2004, Volume 14, Issue 1, pp. 160 - 169
The EnsMart system (www.ensembl.org/EnsMart) provides a generic data warehousing solution for fast and flexible querying of large biological data sets and... 
ANNOTATIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | DBSNP | EXPRESSION DATA | RETRIEVAL | GENETIC-VARIATION | SRS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | UCSC | RETINITIS-PIGMENTOSA | SINGLE NUCLEOTIDE POLYMORPHISMS | GENOME BROWSER | User-Computer Interface | Computational Biology - methods | Humans | Databases, Genetic | Genes - genetics | Molecular Sequence Data | Rats | Computer Graphics | Animals | Base Sequence | Database Management Systems | Mice | Software | Genetic research | Genomes | Research | Nucleotide sequence | DNA | DNA microarrays | Expressed sequence tags | Index Medicus | Resources
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
10. Full Text Prevalence of sexual dimorphism in mammalian phenotypic traits
by Karp, Natasha A and Mason, Jeremy and Beaudet, Arthur L and Benjamini, Yoav and Bower, Lynette and Braun, Robert E and Brown, Steve D.M and Chesler, Elissa J and DIckinson, Mary E and Flenniken, Ann M and Fuchs, Helmut and Angelis, Martin Hrabe De and Gao, Xiang and Guo, Shiying and Greenaway, Simon and Heller, Ruth and Herault, Yann and Justice, Monica J and Kurbatova, Natalja and Lelliott, Christopher J and Lloyd, K.C. Kent and Mallon, Ann-Marie and Mank, Judith E and Masuya, Hiroshi and McKerlie, Colin and Meehan, Terrence F and Mott, Richard F and Murray, Stephen A and Parkinson, Helen and Ramirez-Solis, Ramiro and Santos, Luis and Seavitt, John R and Smedley, Damian and Sorg, Tania and Speak, Anneliese O and Steel, Karen P and Svenson, Karen L and Wakana, Shigeharu and West, David and Wells, Sara and Westerberg, Henrik and Yaacoby, Shay and White, Jacqueline K and Int Mouse Phenotyping Consortium and International Mouse Phenotyping Consortium
Nature Communications, ISSN 2041-1723, 06/2017, Volume 8, Issue 1, pp. 1DUMMY - 15475
The role of sex in biomedical studies has often been overlooked, despite evidence of sexually dimorphic effects in some biological studies. Here, we used... 
CONSORTIUM | BIOMEDICAL-RESEARCH | BIAS | MULTIDISCIPLINARY SCIENCES | MICE | SCIENCE | EXPRESSION | GENE-FUNCTION | Genotype & phenotype | Animal models | Biological effects | Sex | Dimorphism | Sexual dimorphism | Mammals | Mutants | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
11. Full Text A gene expression resource generated by genome-wide lacZ profiling in the mouse
by Tuck, Elizabeth and Estabel, Jeanne and Oellrich, Anika and Maguire, Anna Karin and Adissu, Hibret A and Souter, Luke and Siragher, Emma and Lillistone, Charlotte and Green, Angela L and Wardle-Jones, Hannah and Carragher, Damian M and Karp, Natasha A and Smedley, Damian and Adams, Niels C and Agrawal, Neha and Bagley, Lisa and Bayzetinova, Tetyana and Bottomley, Joanna and Brown, Ellen and Burvill, Jonathan and Cambridge, Emma and Clare, Simon and Colin, Amy and Dabrowska, Monika and Doe, Brendan and Evans, Arthur and Gannon, David and Gates, Amy and Gleeson, Diane and Grau, Evelyn and Griffiths, Mark and Griggs, Nicola and Habib, Bishoy and Harcourt, Katherine and Hilton, Sam and Holroyd, Simon and Hooks, Yvette and Horne, Alan and Mazzeo, Cecilia Icoresi and Imbrasas, Paulius and Ingle, Catherine and Isherwood, Christopher and Jacobsen, Julius and Jahangir, Nida and Kane, Leanne and Kipp, Christian and Kussy, Fiona and Lafont, David and Lelliott, Christopher and Lin, Liwen and Madich, Alla and Maguire, Simon and Maswood, Ryea and McCarthy, Catherine and McDonald, Jerome and McGill, Katherine and McIntyre, Zoe and Melvin, David and Newman, Stuart and Papatheodorou, Irene and Pearson, Selina and Pearson, Laila and Roberson, Laura and Ryder, Edward and Sanderson, Mark and Raj, Mary Santhana and Sethi, Debarati and Shannon, Carl and Sinclair, Caroline and Soloman, Helen and Speak, Anneliese and Strevens, Natasha and Swiatkowska, Agnieszka and Tudor, Catherine and Valentini, Sara and Vancollie, Valerie and Weavers, Lauren and Woods, Michael and Bussell, James N and Adams, David J and Ramírez-Solis, Ramiro and Steel, Karen P and Galli, Antonella and White, Jacqueline K and Sanger Inst Mouse Genetics Project and Sanger Institute Mouse Genetics Project
DMM Disease Models and Mechanisms, ISSN 1754-8403, 11/2015, Volume 8, Issue 11, pp. 1467 - 1478
Knowledge of the expression profile of a gene is a critical piece of information required to build an understanding of the normal and essential functions of... 
Resource | Mouse | Gene expression | LacZ reporter | SPERMATOGENESIS | NERVOUS-SYSTEM | TRANSCRIPTOME | lacZ reporter | TRANSFECTION EFFICIENCY | PHENOTYPES | PATHOLOGY | BETA-GALACTOSIDASE ACTIVITY | CELL BIOLOGY | LOCUS-CONTROL REGION | ENZYME | MICE | TARGETED DELETION | Genome-Wide Association Study | Age Factors | Computational Biology | Databases, Genetic | Gene Expression Profiling - methods | Male | Organ Specificity | Mice, Knockout | Homozygote | Phenotype | Animals | Gene Expression Regulation, Developmental | Female | High-Throughput Nucleotide Sequencing | Mutation | Genes, Reporter | Lac Operon | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights