Welcome to the
Cerebrovascular Disease
Knowledge Portal
By Guido J. Falcone, MD, ScD, MPH, and Jonathan Rosand, MD, MSc
We are pleased to announce the launch of the
Cerebrovascular Disease Knowledge Portal
(CDKP). This open-access resource brings
stroke genomic information to the world.
About the Cerebrovascular Disease
Knowledge Portal Project
Funded by the National Institute of
Neurological Disorders and Stroke, the
Cerebrovascular Disease Knowledge Portal
has been developed by a team of clinicians,
scientists, and software engineers from
the Broad Institute of MIT and Harvard,
Massachusetts General Hospital, Yale
University, and many collaborators from the
International Stroke Genetics Consortium.
The goal of the platform is to democratize
access to genomic data and accelerate stroke
genomics research by providing open access to
genetic, phenotypic, and imaging data on large
numbers of patients with stroke from around
the world.
Guido J. Falcone,
MD, ScD, MPH
History
In the past decade, the introduction of high throughput
genotyping technologies revolutionized the way we think about,
and work with, genomic data. These new technologies have been
potentiated by the creation of large collaboration networks that
allow the assembly of sample sizes unimaginable not long ago.
Launched in 2007, the International Stroke Genetics Consortium
(ISGC) brought together a global community of investigators.
Working groups within the ISGC have been responsible for the
discovery of dozens of genetic susceptibility loci for stroke and
continue to pursue further discoveries. To capitalize fully on
the unique opportunities available through the generation of
genetic and phenotypic data on large numbers of individuals with
cerebrovascular disease, the ISGC launched the Cerebrovascular
Disease Knowledge Portal (www.cerebrovascularportal.org), a
comprehensive web-based resource that facilitates the exploration
of, and access to, the rich genetic and phenotypic data related
to cerebrovascular disease that has been generated by the ISGC.
It is built with the Knowledge Portal architecture developed at
the Broad Institute. The CDKP expands on this architecture with
additional features and partnerships.
The Cerebrovascular Disease Knowledge Portal
The Cerebrovascular Disease Knowledge Portal houses two
substantially different types of data: summary level data and
individual level data. Summary level data (summary statistics)
consist of full sets of results described in published genetic
association studies in stroke genomics. Individual level data
consist of complete datasets containing phenotypic and genotypic
information from cohorts of stroke patients and controls enrolled
as part of one of the constituent studies within the ISGC.
The Cerebrovascular Disease Knowledge Portal is designed to serve
three key functions:
• To be a central repository for large datasets of human
genetic information linked to cerebrovascular disease and
related traits.
• To function as a scientific discovery engine that can be
harnessed by the community at large, and ultimately
assist in the selection of new targets for cerebrovascular
drug design.
• To facilitate the conduct of customized analyses by any
interested user around the world, doing so in a secure
manner that provides high quality results while protecting
the integrity of the data.
The Cerebrovascular Disease Knowledge Portal is intended to
be secure, compliant with pertinent ethical regulations, accessible to a
wide user base, inviting to researchers who may want to contribute
data and participate in analyses, modular in its analytical
capabilities and user interfaces, automated, rigorous in the quality of
data aggregation and returned results, versatile, and sustainable.
The Cerebrovascular Disease Knowledge Portal is constructed
on a software architecture originally developed for the Type
2 Diabetes Knowledge Portal, built as the central product of
the Accelerating Medicines Partnership in Type 2 Diabetes.
The Cerebrovascular Disease Knowledge Portal provides
three different avenues to access stroke genetic data: (1) a
user-friendly, web-based interface that allows users to explore
existing genetic results; (2) full sets of genome-wide summary
statistics generated by published studies on stroke genomics,
immediately available for download; and (3) access to
individual-level data through the American Heart Association’s
(AHA) Precision Medicine Platform (see below).
Partnership with the American Heart Association
The developers of the Cerebrovascular Disease Knowledge Portal
have partnered with the AHA Institute for Precision Cardiovascular
Medicine. The institute is committed to advancing precision
medicine through mechanisms such as the Cerebrovascular Disease
Knowledge Portal. Through this partnership, a resource has been
developed that allows scientists to query and analyze individual
level data on a secure informatic workspace. By enabling liberal
and secure data sharing, this workspace will help investigators
to find novel mechanisms and therapeutic targets in stroke and
cardiovascular disease.
www.cerebrovascularportal.org
Jonathan Rosand,
MD, MSc
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