Bystro: rapid online variant annotation and natural-language filtering at whole-genome scale

Genome Biology

Alex V. Kotlar¹  Thomas S. Wingo¹  Cristina E. Trevino¹  Michael E. Zwick¹  David J. Cutler¹ 

[1] Department of Human Genetics, Emory University School of Medicine;

关键词: Natural-language search;    Genomics;    Bioinformatics;    Annotation;    Filtering;    Web;   

DOI  :  10.1186/s13059-018-1387-3

来源: DOAJ

【 摘 要 】

Abstract Accurately selecting relevant alleles in large sequencing experiments remains technically challenging. Bystro (https://bystro.io/) is the first online, cloud-based application that makes variant annotation and filtering accessible to all researchers for terabyte-sized whole-genome experiments containing thousands of samples. Its key innovation is a general-purpose, natural-language search engine that enables users to identify and export alleles and samples of interest in milliseconds. The search engine dramatically simplifies complex filtering tasks that previously required programming experience or specialty command-line programs. Critically, Bystro’s annotation and filtering capabilities are orders of magnitude faster than previous solutions, saving weeks of processing time for large experiments.

【 授权许可】

Unknown