期刊
GENOME BIOLOGY
卷 20, 期 1, 页码 -出版社
BMC
DOI: 10.1186/s13059-019-1845-6
关键词
Deep mutational scanning; Massively parallel reporter assays; Large-scale mutagenesis; MAVE; Multiplexed assay of variant effect; Genome interpretation; Personalized medicine
资金
- National Institutes of Health (NIH) [R01GM109110, RM1HG010461]
- Brotman Baty Institute for Precision Medicine
- Lorenzo and Pamela Galli Charitable Trust
- Australian National Health and Medical Research Council (NHMRC) Program Grant [1054618]
- NHMRC Senior Research Fellowship [1116955]
- Victorian State Government Operational Infrastructure Support
- Australian Government NHMRC Independent Research Institute Infrastructure Support
- One Brave Idea Initiative
- National Human Genome Research Institute of the NIH Center of Excellence in Genomic Science Initiative [HG004233]
- Canadian Excellence Research Chairs Program
- Canadian Institutes of Health Research Foundation
- National Health and Medical Research Council of Australia [1116955] Funding Source: NHMRC
Multiplex assays of variant effect (MAVEs), such as deep mutational scans and massively parallel reporter assays, test thousands of sequence variants in a single experiment. Despite the importance of MAVE data for basic and clinical research, there is no standard resource for their discovery and distribution. Here, we present MaveDB (https://www.mavedb.org), a public repository for large-scale measurements of sequence variant impact, designed for interoperability with applications to interpret these datasets. We also describe the first such application, MaveVis, which retrieves, visualizes, and contextualizes variant effect maps. Together, the database and applications will empower the community to mine these powerful datasets.
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