학술논문

SeqAnt : Cloud-Based Whole-Genome Annotation and Search
Document Type
Conference
Source
Proceedings of the 8th ACM International Conference on Bioinformatics, Computational Biology,and Health Informatics. :621-621
Subject
annotation
big data
bioinformatics
clinical
deleterious
disease
filtering
genetics
genomics
network architecture
phenotype
search
Language
English
Abstract
Describing, prioritizing, and selecting alleles from large sequencing experiments remains technically challenging. SeqAnt (https://seqant.emory.edu) is the first online, cloud-based application that makes these tasks accessible for non-programmers, even for terabyte-sized experiments containing thousands of whole-genome samples. It rapidly describes the alleles found within submitted VCF files, and then indexes the results in a natural-language search engine, which enables users to locate alleles of interest in milliseconds using normal English phrases. Our results show that SeqAnt decreases processing time by orders of magnitude and that its search engine can be used to precisely identify alleles by phenotype, genomic structure, and population genetics characteristics.

Online Access