Although knowledge in the field of human genetics has greatly increased since the time of
the Human Genome Project, we still do not fully understand all of the ways in which genomic
variation contributes to human health and disease. This proposal represents one of three
linked U41 applications to continue support for the Clinical Genome Resource (ClinGen;
www.clinicalgenome.org). The main goals of the ClinGen project are to support the
deposition of genomic and health data into the public domain by all stakeholders, including
patients, clinicians, laboratories, and researchers, develop methods and an informatics
infrastructure to answer critical questions of the data (curation), and create a genomic
knowledge base that makes this information available to the community for improved patient
care. We have structured this proposal into five overarching aims to meet ClinGen's goals: 1)
data sharing, 2) standardized approaches to interpretation of genes and variants, 3) software
and informatics infrastructure to support and enhance interpretation, 4) community-driven
efforts for curation and interpretation, and 5) outreach to maximize the impact of the ClinGen
resource. To make high-quality genomic variant data available to the public, we will build
upon the standards, experience and infrastructure we have developed during our first funding
period. We will capitalize on our collaborative relationships with clinical laboratories to
capture the clinical-grade interpretations of millions of genetic sequencing tests generated
through the course of routine patient clinical care. All genomic variants and their
interpretations will continue to be submitted to and made accessible through our partnership
with the ClinVar database within NIH's National Center for Biotechnology Information (NCBI).
We will also help to augment the genomic data with phenotype data collected through
GenomeConnect, ClinGen's patient registry for individuals who have had genetic testing.
ClinGen will use this shared genomic and health information to answer critical questions
regarding relevance to human health and disease around clinical validity for gene/disease
associations, variant pathogenicity and clinical actionability. Clinical Domain Working Groups
(CDWG) and Expert Panels (EP) will enable disease experts to curate sets of genes and
variants following approaches developed as part of the ClinGen project. Finally, we will make
the ClinGen knowledge base widely available by
developing “clinician-friendly” user interfaces
and supporting automatic EHR updates through the newly developed ClinGen EHR App
improve the quality of patient care through genomic medicine.
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