Open-source database enhances genomics research collaboration
An open-source database of genomic variants in health and disease
has been developed by Australian and North American researchers to simplify the
sharing of this information between academics.
The MaveDB database stores data from multiplex assays of variant
effect (MAVE) experiments, which systematically measure the impact of thousands
of individual sequence variants on a gene’s function. It was developed by
researchers from the Walter and Eliza Hall Institute of Medical Research in
Melbourne, Australia, as well as the University of Washington in the US and the
University of Toronto in Canada.
MAVE experiments provide valuable information about how genetic
proteins function, how genetic variants may contribute to disease, and how to
engineer synthetic versions of naturally occurring proteins that are more
effective than the original protein.
Until now, MAVE data from experiments has either been uploaded to
journal websites or provided on request to other researchers. This has made it
hard for clinicians to access the data of other groups, or even know if a
particular MAVE experiment has been carried out elsewhere in the world,
hindering both collaborations and the progress of genomics research.
Walter and Eliza Hall Institute bioinformatics researcher Dr Alan Rubin said:
“MaveDB makes it easier for scientists to share their datasets in a single
location, using a flexible format that is applicable to multiple research
fields, and enables other scientists to easily access this data to enhance
their research.
“We’ve also ensured MaveDB can ‘talk’ to other databases to add an
extra level of collaborative capacity. For the growing field of MAVE research
this database is an important step towards open science and reproducibility by
ensuring data is made available.”
Alongside MaveDB the team developed a data visualisation platform
called MaveVis, which makes it easier for researchers to understand and
interpret the results of MAVE experiments.
Rubin said: “MaveVis provides an immediate and consistent display
for MAVE data, including valuable annotations such as protein structure
information, that will accelerate collaborative research.”
The research was funded by the Brotman Baty Institute for
Precision Medicine, the US National Institutes of Health, the Canadian
Institutes of Health, the Lorenzo and Pamela Galli Charitable Trust, the
Australian National Health and Medical Research Council and the Victorian
Government.
Regards
Mr. Pralhad Jadhav
Research Scholar (IGNOU)
Senior Manager @ Knowledge Repository
Khaitan & Co
Mobile @ 9665911593
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