VCF-Miner: GUI-based application for mining variants and annotations stored in VCF files
| Autor: | Jean-Pierre A. Kocher, Steven N. Hart, Michael A. Meiners, Daniel J. Quest, Asif Hossain, Patrick H. Duffy |
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| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
0301 basic medicine
Computer science analysis computer.software_genre Polymorphism Single Nucleotide 03 medical and health sciences Annotation User-Computer Interface Server Databases Genetic genomics Humans Genetic Predisposition to Disease Molecular Biology Database engine Graphical user interface Variant Call Format business.industry software Genetic Variation High-Throughput Nucleotide Sequencing bioinformatics File format user interface 030104 developmental biology VCF Personal computer Papers Database Management Systems Data mining User interface business computer Algorithms Information Systems |
| Zdroj: | Briefings in Bioinformatics |
| ISSN: | 1477-4054 1467-5463 |
| Popis: | Next-generation sequencing platforms are widely used to discover variants associated with disease. The processing of sequencing data involves read alignment, variant calling, variant annotation and variant filtering. The standard file format to hold variant calls is the variant call format (VCF) file. According to the format specifications, any arbitrary annotation can be added to the VCF file for downstream processing. However, most downstream analysis programs disregard annotations already present in the VCF and re-annotate variants using the annotation provided by that particular program. This precludes investigators who have collected information on variants from literature or other sources from including these annotations in the filtering and mining of variants. We have developed VCF-Miner, a graphical user interface-based stand-alone tool, to mine variants and annotation stored in the VCF. Powered by a MongoDB database engine, VCF-Miner enables the stepwise trimming of non-relevant variants. The grouping feature implemented in VCF-Miner can be used to identify somatic variants by contrasting variants in tumor and in normal samples or to identify recessive/dominant variants in family studies. It is not limited to human data, but can also be extended to include non-diploid organisms. It also supports copy number or any other variant type supported by the VCF specification. VCF-Miner can be used on a personal computer or large institutional servers and is freely available for download from http://bioinformaticstools.mayo.edu/research/vcf-miner/. |
| Databáze: | OpenAIRE |
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