Title |
VariantDB: a flexible annotation and filtering portal for next generation sequencing data
|
---|---|
Published in |
Genome Medicine, October 2014
|
DOI | 10.1186/s13073-014-0074-6 |
Pubmed ID | |
Authors |
Geert Vandeweyer, Lut Van Laer, Bart Loeys, Tim Van den Bulcke, R Frank Kooy |
Abstract |
Interpretation of the multitude of variants obtained from next generation sequencing (NGS) is labor intensive and complex. Web-based interfaces such as Galaxy streamline the generation of variant lists but lack flexibility in the downstream annotation and filtering that are necessary to identify causative variants in medical genomics. To this end, we built VariantDB, a web-based interactive annotation and filtering platform that automatically annotates variants with allele frequencies, functional impact, pathogenicity predictions and pathway information. VariantDB allows filtering by all annotations, under dominant, recessive or de novo inheritance models and is freely available at http://www.biomina.be/app/variantdb/. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
India | 2 | 29% |
United Kingdom | 2 | 29% |
Sweden | 1 | 14% |
Unknown | 2 | 29% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 7 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 2 | 3% |
Italy | 1 | 2% |
Sweden | 1 | 2% |
Germany | 1 | 2% |
Belgium | 1 | 2% |
Finland | 1 | 2% |
Spain | 1 | 2% |
Luxembourg | 1 | 2% |
Unknown | 53 | 85% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 26 | 42% |
Student > Ph. D. Student | 18 | 29% |
Student > Bachelor | 4 | 6% |
Student > Postgraduate | 3 | 5% |
Student > Master | 3 | 5% |
Other | 2 | 3% |
Unknown | 6 | 10% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 24 | 39% |
Biochemistry, Genetics and Molecular Biology | 13 | 21% |
Medicine and Dentistry | 10 | 16% |
Computer Science | 4 | 6% |
Neuroscience | 1 | 2% |
Other | 0 | 0% |
Unknown | 10 | 16% |