RT Journal Article
SR Electronic
T1 Bystro: rapid online variant annotation and natural-language filtering at whole-genome scale
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 146514
DO 10.1101/146514
A1 Alex V. Kotlar
A1 Cristina E. Trevino
A1 Michael E. Zwick
A1 David J. Cutler
A1 Thomas S. Wingo
YR 2017
UL http://biorxiv.org/content/early/2017/12/21/146514.abstract
AB 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.