Abstract

This proposal is in response to supplemental funding available to further NHGRI goals to develop initiatives that improve the understanding of relationships among variation, function, and disease. This proposed supplement will seek to determine the concordance of functional assay score of BRCA1 variants generated by saturation genome editing with sequencing lab pathogenicity classification in the eMERGE network. We will also attempt to determine the concordance of BRCA1 SNV functional classifications with clinical data in the eMERGE network. We will publicly share resulting evidence for the pathogenicity of each variant on ClinVar.

Public Health Relevance

This proposed supplement will seek to determine the concordance of functional assay score of BRCA1 variants generated by saturation genome editing with sequencing lab pathogenicity classification in the eMERGE network. We will also attempt to determine the concordance of BRCA1 SNV functional classifications with clinical data in the eMERGE network. We will publicly share resulting evidence for the pathogenicity of each variant on ClinVar.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Research Project--Cooperative Agreements (U01)
Project #
3U01HG008657-05S1
Application #
9694530
Study Section
Special Emphasis Panel (ZHG1)
Program Officer
Li, Rongling
Project Start
2015-09-01
Project End
2019-05-31
Budget Start
2018-08-29
Budget End
2019-05-31
Support Year
5
Fiscal Year
2018
Total Cost
Indirect Cost

  Institution

Name
Kaiser Foundation Research Institute
Department
Type
DUNS #
150829349
City
Oakland
State
CA
Country
United States
Zip Code
94612

  Publications

Evans, Barbara J; Jarvik, Gail P (2018) Impact of HIPAA's minimum necessary standard on genomic data sharing. Genet Med 20:531-535
Fossey, Robyn; Kochan, David; Winkler, Erin et al. (2018) Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience. J Pers Med 8:
Antommaria, Armand H Matheny; Brothers, Kyle B; Myers, John A et al. (2018) Parents' attitudes toward consent and data sharing in biobanks: A multisite experimental survey. AJOB Empir Bioeth 9:128-142
Wei, Wei-Qi; Li, Xiaohui; Feng, Qiping et al. (2018) LPA Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins. Circulation 138:1839-1849
Wang, Liuyang; Pittman, Kelly J; Barker, Jeffrey R et al. (2018) An Atlas of Genetic Variation Linking Pathogen-Induced Cellular Traits to Human Disease. Cell Host Microbe 24:308-323.e6
Sanderson, Saskia C; Brothers, Kyle B; Mercaldo, Nathaniel D et al. (2017) Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US. Am J Hum Genet 100:414-427
Marouli, Eirini (see original citation for additional authors) (2017) Rare and low-frequency coding variants alter human adult height. Nature 542:186-190
Patel, Ronak Y; Shah, Neethu; Jackson, Andrew R et al. (2017) ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants. Genome Med 9:3
Sims, Rebecca (see original citation for additional authors) (2017) Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nat Genet 49:1373-1384
Jones, Gregory T; Tromp, Gerard; Kuivaniemi, Helena et al. (2017) Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci. Circ Res 120:341-353

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