Variation, Function, and Disease Supplement Program

$276,315U01FY2018HGNIH

Kaiser Foundation Research Institute, Oakland CA

Investigators

Eric B Larsoncontact Gail Pairitz Jarvik

Linked publications, trials & patents

Paper 39606329 Paper 39399661 Paper 39315247 Paper 39080328 Paper 38958117 Paper 38883718 Paper 38827078 Paper 38712163 Paper 38688278 Paper 38645167 Paper 38614075 Paper 38460116 Paper 38433186 Paper 38374346 Paper 38260403 Paper 38126226 Paper 38036523 Paper 37986758 Paper 37883979 Paper 37783704 Paper 37559024 Paper 37528055 Paper 37343562 Paper 37333246 Paper 37260021 Paper 37246632 Paper 37071725 Paper 36621880 Paper 36610427 Paper 36540998 Paper 36540997 Paper 36474423 Paper 36383166 Paper 36372681 Paper 36224396 Paper 35915156 Paper 35595084 Paper 35594287 Paper 35413975 Paper 35379992 Paper 35226188 Paper 35216901 Paper 35210353 Paper 35142023 Paper 35120553 Paper 34930020 Paper 34665896 Paper 34302027 Paper 34257418 Paper 34140684 Paper 34040952 Paper 33979874 Paper 33951936 Paper 33942053 Paper 33941608 Paper 33930535 Paper 33903204 Paper 33729212 Paper 33603197 Paper 33591484 Paper 33455827 Paper 33407432 Paper 32964493 Paper 32952152 Paper 32930712 Paper 32669677 Paper 32579152 Paper 32555418 Paper 32546831 Paper 32413979 Paper 32386537 Paper 32349224 Paper 31917831 Paper 31542521 Paper 31447099 Paper 31422818 Paper 31325501 Paper 31311600 Paper 30988330 Paper 30951675 Paper 30890783 Paper 30864329 Paper 30848956 Paper 30774981 Paper 30737640 Paper 30459343 Paper 30334910 Paper 30298529 Paper 30240342 Paper 30166544 Paper 30124903 Paper 30092202 Paper 30011878 Paper 29860405 Paper 29703846 Paper 29301385 Paper 28914268 Paper 28770004 Paper 28714976 Paper 28639489

Abstract

PROJECT SUMMARY 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.

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