Advancing rare disease discovery through technological and methodological approaches using an intuitive platform, seqr
Active Project Grant Awarded Last action
- Award ID
- R01HG013986
- Recipient
-
The Broad Institute, Inc. UEI H5G9NWEFHXN4
- Awarding agency
-
National Human Genome Research Institute
National Institutes of Health, Department of Health and Human Services
- Obligated
- $6,699,054
Award facts
- Assistance listing
- 93.172 Human Genome Research
- Completion date 30% complete
- Place of performance
- Cambridge, MA 02142, USA
Award details come from USAspending.gov.
Description
- Abstract
- Over half of all rare disease families remain undiagnosed following exome and genome sequencing analysis. Remarkable developments in genomic technologies, analytical tools, and innovative data sharing are advancing mendelian gene discovery. However, the benefits of these novel advances will only become realized if they are integrated into widely accessible platforms for genomic analysis. The broad institute center for mendelian genomics has supported the deployment and ongoing development of the seqr genomic analysis platform, which is freely available to the community either on the anvil platform or as an open-source tool that can be installed locally. This proposal seeks to advance the discovery rate for rare disease through ongoing development of the seqr platform, incorporating and evaluating the impact of three novel advances: 1) innovative data sharing through variant level matching by connecting seqr to a growing federated platform of rare disease and population genomic data with associated phenotype; 2) deployment of automated analytical tools on previously examined and unsolved cases to identify variation that is newly implicated as pathogenic in genes with known disease associations or in genes that are newly implicated in disease; and 3) incorporation of novel technologies such as long read DNA and RNA sequencing data that can be easily analyzed in a genome-wide manner. We will study the impact of these novel advances by analyzing the diagnostic yield of each approach. As seqr is freely available and open source, our proposal democratizes the process of genetic discovery, empowering researchers and clinicians to resolve diagnostic variants, and accelerate the rate of diagnosis for the global population of individuals with rare genetic disease.
Transactions
| Action | Obligated | Date |
|---|---|---|
| Amendment | $0 | |
| Amendment | $3,349,527 | |
| Original award | $3,349,527 |
Quick answers
Who received award R01HG013986?
R01HG013986 was awarded to The Broad Institute, Inc. by National Human Genome Research Institute (National Institutes of Health) on September 8, 2025.
How much is award R01HG013986 worth?
$6,699,054 has been obligated on R01HG013986.
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