Author

H. Shanker Rao

Geisinger Health SystemORCID 0000-0001-6827-1470Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Approach:benchmark study· 1 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1

Frequent Co-Authors

David J. CareyiD· 2 shared Douglas R. StewartiD· 2 shared Jeremy S. HaleyiD· 2 shared Jung KimiD· 2 shared Uyenlinh L. MirshahiiD· 2 shared Abraham A. ShakediD· 1 shared Adam E. LockeiD· 1 shared Adam J. Mansfield· 1 shared

Activity by Year

2019-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

David J. CareyORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineJAMA Network OpenPeer-reviewedDec 15, 2025

Genomic ascertainment of CHEK2-related cancer predisposition

Sun Young Kim, Jung Kim, Mark Ramos…·Arden Moscati

This study quantifies cancer risk and penetrance in CHEK2 heterozygotes using genomic data from two large biobanks, finding increased risks for several cancers and younger age of onset.

7 citations

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintOct 9, 2024

Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes

Jung Kim, Gina M. Ney, Megan N. Frone…·Douglas R. Stewart

This study quantifies cancer risk and prevalence in adults with germline pathogenic variants in RASopathy genes using genomic data from three biobanks.

1 citation

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsThe American Journal of Human GeneticsPeer-reviewedJun 13, 2019

Genetic And Epigenetic Fine Mapping Of Complex Trait Associated Loci In The Human Liver

Minal Çalışkan, Elisabetta Manduchi, H. Shanker Rao…·Christopher D. Brown

The paper fine-maps 77 GWAS loci in the human liver by integrating epigenetic and gene expression data to understand genetic and epigenetic regulation of gene expression.

60 citations

humanbulk RNA-seq

𝕏 PostBluesky