Bystro: rapid online variant annotation and natural-language filtering at whole-genome scale
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 experimen...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2018-02-01
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| Series: | Genome Biology |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13059-018-1387-3 |
| _version_ | 1828531076716298240 |
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| author | Alex V. Kotlar Cristina E. Trevino Michael E. Zwick David J. Cutler Thomas S. Wingo |
| author_facet | Alex V. Kotlar Cristina E. Trevino Michael E. Zwick David J. Cutler Thomas S. Wingo |
| author_sort | Alex V. Kotlar |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-11T22:32:25Z |
| format | Article |
| id | doaj.art-d1aeaf722c9144b8820160089405e8a0 |
| institution | Directory Open Access Journal |
| issn | 1474-760X |
| language | English |
| last_indexed | 2024-12-11T22:32:25Z |
| publishDate | 2018-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Genome Biology |
| spelling | doaj.art-d1aeaf722c9144b8820160089405e8a02022-12-22T00:48:05ZengBMCGenome Biology1474-760X2018-02-0119111110.1186/s13059-018-1387-3Bystro: rapid online variant annotation and natural-language filtering at whole-genome scaleAlex V. Kotlar0Cristina E. Trevino1Michael E. Zwick2David J. Cutler3Thomas S. Wingo4Department of Human Genetics, Emory University School of MedicineDepartment of Human Genetics, Emory University School of MedicineDepartment of Human Genetics, Emory University School of MedicineDepartment of Human Genetics, Emory University School of MedicineDepartment of Human Genetics, Emory University School of MedicineAbstract 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.http://link.springer.com/article/10.1186/s13059-018-1387-3Natural-language searchGenomicsBioinformaticsAnnotationFilteringWeb |
| spellingShingle | Alex V. Kotlar Cristina E. Trevino Michael E. Zwick David J. Cutler Thomas S. Wingo Bystro: rapid online variant annotation and natural-language filtering at whole-genome scale Genome Biology Natural-language search Genomics Bioinformatics Annotation Filtering Web |
| title | Bystro: rapid online variant annotation and natural-language filtering at whole-genome scale |
| title_full | Bystro: rapid online variant annotation and natural-language filtering at whole-genome scale |
| title_fullStr | Bystro: rapid online variant annotation and natural-language filtering at whole-genome scale |
| title_full_unstemmed | Bystro: rapid online variant annotation and natural-language filtering at whole-genome scale |
| title_short | Bystro: rapid online variant annotation and natural-language filtering at whole-genome scale |
| title_sort | bystro rapid online variant annotation and natural language filtering at whole genome scale |
| topic | Natural-language search Genomics Bioinformatics Annotation Filtering Web |
| url | http://link.springer.com/article/10.1186/s13059-018-1387-3 |
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