Author

Goncalo Abecasis

Abramson Cancer Center

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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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-genome sequencing· 2 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Research Focus:imputation· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

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

Activity by Year

2016-2021 · 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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3 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

A reference panel of 64,976 haplotypes for genotype imputation

Shane McCarthy, Sayantan Das, Warren Kretzschmar, Richard Durbin, Goncalo Abecasis, Jonathan Marchini

The paper constructs a haplotype reference panel for genotype imputation, enabling accurate imputation at low minor allele frequencies and enhancing association studies.

Nature Genetics · Aug 22, 2016Peer-reviewedGenetics