University of washington (UW) mendelian genomics data coordinating center

Active Cooperative Agreement Awarded Last action

Award ID
U24HG011746
Recipient
Awarding agency
Obligated
$34,074,666

Award facts

Assistance listing
93.172 Human Genome Research
Completion date 93% complete
Originally
Funding
  • $31,878,791.00 Federal
  • $2,195,875.00 Non-federal
Place of performance
Seattle, WA 98195, USA

Award details come from USAspending.gov.

Description

Abstract
Despite significant advances made in understanding the genetic basis of the more than 10,000 estimated mendelian conditions in recent decades, further scientific collaboration and discovery is required to identify the full set of mendelian diseases and their underlying genetic causes. To build on the success of the centers for mendelian genomics by using further technological, methodological, and data-sharing innovations, nhgri is establishing a new mendelian genomics research consortium. As data coordinating center for this consortium, we propose to further the discovery and characterization of mendelian conditions by achieving four main aims. (1) managing the release of molecular and phenotypic data generated or collected by the consortium's research centers, featuring semi-automated and scalable quality control procedures that will validate incoming data against collaboratively-established standards and requirements. We will facilitate data sharing within the consortium and the broader scientific community by ensuring that curated data are submitted to appropriate repositories including anvil, clinvar, and matchmaker exchange. (2) supporting program outreach through a consortium website that highlights program progress and discoveries and enabling connections among researchers, clinicians, and families. We will also oversee education, training, and mentorship opportunities. (3) coordinating logistics for the consortium, including organization of virtual and in-person meetings and administrative support for all consortium-wide activities. (4) overseeing an opportunity fund, administering up to 5 awards in each of years 2-5 of the consortium, to support novel and scalable approaches to functional follow-up on candidate variants. To achieve these four main aims, we propose innovative approaches, including leveraging emerging cloud-based systems for the storage and analysis of human genetic data and integrating international data sharing standards to ensure that data is findable, accessible, interoperable, and reusable (FAIR). Furthermore, we bring a unique blend of expertise across the fields of data science, cloud systems, biostatistics, bioethics, clinical genetics, and mendelian discovery to the consortium, and our application rests on 13 successful years of experience and expertise serving as coordinating or analysis centers for 7 large-scale genetic and biomedical projects. Through support and coordination of this consortium, we will help yield the benefits of identifying the genetic basis of mendelian conditions to support diagnosis, therapy, and further delineation of syndromes. Further public health benefit will accrue via biological insights into mendelian diseases that also advance our understanding of related common, complex diseases.

Transactions

Action Federal Non-federal Date
Amendment $0 $0
Amendment $1,279,092 $0
Amendment $1,279,092 $0
Amendment $0 $0
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Amendment $2,714,093 $0
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Amendment $225,495 $0
Amendment $225,495 $0
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Amendment $2,536,785 $0
Amendment $2,536,785 $0
Amendment $2,536,785 $0
Amendment $2,536,785 $0
Amendment $2,866,502 $0
Amendment $2,866,502 $0
Amendment $0 $0
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Amendment $0 $0
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Amendment $2,944,042 $0
Amendment -$16,473 $0
Amendment -$16,473 -$16,473
Amendment $2,212,348 $0
Original award $2,212,348 $2,212,348
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Subawards

Subrecipient Amount Awarded
Pacific Northwest Research Institute University of Washington (UW) Mendelian Genomics Data Coordinating Center. $227,963
University Of Massachusetts Medical School $205,173
Research Institute At Nationwide Children's Hospital $395,676
Childrens Mercy Hospital $128,438
Massachusetts Eye And Ear Infirmary $17,000
The Broad Institute, Inc. $9,041
Research Institute At Nationwide Children's Hospital $16,700
Pacific Northwest Research Institute $18,179
University Of Massachusetts Medical School $16,744
The University Of Chicago $134,998
New York University $83,903
Massachusetts Eye And Ear Infirmary $403,750
The Broad Institute, Inc. $101,711
Research Institute At Nationwide Children's Hospital $187,876
University Of Massachusetts Medical School $188,424
Pacific Northwest Research Institute $204,506
The Broad Institute, Inc. $107,725
New York University $93,225
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Quick answers

Who received award U24HG011746?

U24HG011746 was awarded to University Of Washington by National Human Genome Research Institute (National Institutes of Health) on June 1, 2021.

How much is award U24HG011746 worth?

$34,074,666 has been obligated on U24HG011746: $31,878,791 in federal funding and $2,195,875 in non-federal funding.

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