Author

Andrew Blumenfeld

Regeneron (United States)

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Adam J. Mansfield· 2 shared Alan Shuldiner· 2 shared Alexander Lopez· 2 shared Alicia Hawes· 2 shared Aris BarasiD· 2 shared Aris Economides· 2 shared Ayesha Rasool· 2 shared Boris BoutkoviD· 2 shared

Activity by Year

2021-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Adam J. Mansfield

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2 papers

Recent·Most cited

Performance of polygenic risk scores for cancer prediction in a racially diverse academic biobank

Louise L. Wang, Heena Desai, Shefali S. Verma, Anh N. Le, Ryan M. Hausler, Anurag Verma, Renae Judy, Abigail G. Doucette, Peter Edward Gabriel, Goncalo Abecasis, Xiaodong Bai, Suganthi Balasubramanian, Aris Baras, Andrew Blumenfeld, Boris Boutkov, , Kara N. Maxwell

This study evaluates polygenic risk scores (PRS) for cancer prediction in a racially diverse biobank, finding moderate improvements in discriminatory accuracy for European ancestry but limited gains for African ancestry.

Genetics in Medicine · Nov 30, 2021Peer-reviewedGenetic & Genomic Medicine

GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms

Lucas D. Ward, Ho-Chou Tu, Chelsea B. Quenneville, Shira Tsour, Alexander O. Flynn-Carroll, Margaret M. Parker, Aimée M. Deaton, Patrick A. J. Haslett, Luca A. Lotta, Niek Verweij, Manuel A. R. Ferreira, RGC Management and Leadership Team, Goncalo Abecasis, Michael Cantor, Giovanni Coppola, , Paul Nioi

This study identifies a rare variant in SLC30A10 associated with elevated ALT/AST and hypermanganesemia symptoms, suggesting broader health impacts beyond diagnosed cases.

Nature Communications · Jul 27, 2021Peer-reviewedGenetics