SeqAnt:基于云的全基因组注释和搜索

Alex V. Kotlar, Cristina E. Trevino, M. Zwick, D. Cutler, T. Wingo
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引用次数: 2

摘要

从大型测序实验中描述、排序和选择等位基因在技术上仍然具有挑战性。SeqAnt (https://seqant.emory.edu)是第一个让非程序员也能完成这些任务的在线云应用程序,即使是包含数千个全基因组样本的tb大小的实验。它可以快速描述在提交的VCF文件中找到的等位基因,然后在自然语言搜索引擎中对结果进行索引,从而使用户能够使用正常的英语短语在几毫秒内定位感兴趣的等位基因。我们的研究结果表明,SeqAnt减少了处理时间的数量级,其搜索引擎可用于根据表型,基因组结构和群体遗传特征精确识别等位基因。
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SeqAnt: Cloud-Based Whole-Genome Annotation and Search
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.
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