BrowseVCF: a web-based application and workflow to quickly prioritise disease-causative variants in VCF files

Abstract excerpt

As sequencing costs associated with fast advancing Next Generation Sequencing (NGS) technologies continue to decrease, variant discovery is becoming a more affordable and popular analysis method among research laboratories. Following variant calling and annotation, accurate variant filtering is a crucial step to extract meaningful biological information from sequencing data and to investigate disease etiology. How...

Topics

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• Algorithms
• Database Management Systems
• Databases, Genetic
• Genetic Variation
• High-Throughput Nucleotide Sequencing
• Polymorphism, Single Nucleotide
• Software
• User-Computer Interface

Identifiers and source

Literature Corpus work

f89c2973-3d6e-5d63-bb83-ddd0ffffe84d

DOI

10.1101/034769