SeqAnt: A web service to rapidly identify and annotate DNA sequence variations

Background: The enormous throughput and low cost of second-generation sequencing platforms now allow research and clinical geneticists to routinely perform single experiments that identify tens of thousands to millions of variant sites. Existing methods to annotate variant sites using information from publicly available databases via web browsers are too slow to be useful for the large sequencing datasets being routinely generated by geneticists. Because sequence annotation of variant sites is required before functional characterization can proceed, the lack of a high-throughput pipeline to efficiently annotate variant sites can act as a significant bottleneck in genetics research. Results: SeqAnt (Sequence Annotator) is an open source web service and software package that rapidly annotates DNA sequence variants and identifies recessive or compound heterozygous loci in human, mouse, fly, and worm genome sequencing experiments. Variants are characterized with respect to their functiona...

• Type: Journal
• Year: 2010
• Where: BMCBI
• Authors: Amol Carl Shetty, Prashanth Athri, Kajari Mondal, Vanessa L. Horner, Karyn Meltz Steinberg, Viren Patel, Tamara Caspary, David J. Cutler, Michael E. Zwick
• Keywords: BMCBI 2010, Second-generation Sequencing Platforms, Sequencing, Variant Sites