Author

Marios Giannakis

Broad InstituteORCID 0000-0001-9012-6982Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexis M. ThorntoniD· 1 shared Alice H. BergeriD· 1 shared Angela Norie BrooksiD· 1 shared April LoiD· 1 shared Brendan Michael ReardoniD· 1 shared Casey O’BrieniD· 1 shared Charles S. FuchsiD· 1 shared David HaaniD· 1 shared

Activity by Year

2018-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperBioinformatics

Alexis M. ThorntonORCID

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2 papers

Recent·Most cited

eVIP2: Expression-based variant impact phenotyping to predict the function of gene variants

Alexis M. Thornton, Lishan Fang, April Lo, Maria V. McSharry, David Haan, Casey O’Brien, Alice H. Berger, Marios Giannakis, Angela Norie Brooks

The paper introduces eVIP2, a tool to predict the functional impact of gene variants using gene expression data, and validates its predictions with experimental assays.

PLoS Computational Biology · Jul 2, 2021Peer-reviewedBioinformatics

Inherited DNA Repair Defects in Colorectal Cancer

Saud H. AlDubayan, Marios Giannakis, Nathanael D. Moore, G. Celine Han, Brendan Michael Reardon, Tsuyoshi Hamada, Xinmeng Jasmine Mu, Reiko Nishihara, Zhirong Qian, Li Liu, Matthew B.B. Yurgelun, Sapna Syngal, Levi A. Garraway, Shuji Ogino, Charles S. Fuchs, Eliezer M. Van Allen

The paper identifies ATM and PALB2 as CRC risk genes through germline mutation analysis and highlights homologous recombination deficiency in CRC tumors.

The American Journal of Human Genetics · Feb 22, 2018Peer-reviewedGenetics