Author

Elizabeth Pugh

Johns Hopkins University

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 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Research Focus:variant effect prediction· 2 Assay:whole-genome sequencing· 2 Research Focus:fine-mapping· 1 Assay:GWAS summary statistics· 1 Research Focus:imputation· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Hua LingiD· 2 shared Kimberly Floy DohenyiD· 2 shared Afua O.D. AbrahamsiD· 1 shared Akindele Olupelumi AdebiyiiD· 1 shared Akintunde Taiwo OrunmuyiiD· 1 shared Alfred I. NeugutiD· 1 shared Ann W. HsingiD· 1 shared Anuradha MittaliD· 1 shared

Activity by Year

2017-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Hua LingORCID

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Author profile →

4 papers

Recent·Most cited

Exome Array Analysis of 9,721 ischemic stroke cases from the SiGN Consortium

Huichun Xu, Kevin Nguyen, Brady J. Gaynor, Hua Ling, Wei Zhao, Patrick F. McArdle, Timothy D. O’Connor, Oscar Colin Stine, Kathleen A. Ryan, Megan T. Lynch, Jennifer A. Smith, Jessica D. Faul, Yao Hu, Jeffrey Haessler, Myriam Fornage, , Braxton D. Mitchell

The paper analyzes exome array data from 9,721 ischemic stroke cases to identify coding variants associated with stroke, finding 15 significant variants, including 13 novel associations.

Genes · Dec 24, 2022Peer-reviewedGenetic & Genomic Medicine

Leveraging TOPMed Imputation Server and Constructing a Cohort-Specific Imputation Reference Panel to Enhance Genotype Imputation among Cystic Fibrosis Patients

Quan Sun, Weifang Liu, Jonathan D. Rosen, Le Huang, Rhonda G. Pace, Hong Dang, Paul J. Gallins, Elizabeth Blue, Hua Ling, Harriet Corvol, Lisa J. Strug, Michael J. Bamshad, Ronald L. Gibson, Elizabeth Pugh, Scott M. Blackman, , Yun Li

The paper improves genotype imputation for CF patients using the TOPMed reference panel and a CF-specific imputation panel, enhancing marker coverage and PRS accuracy.

Human Genetics and Genomics Advances · Jan 11, 2022Peer-reviewedGenetics

A custom genotyping array reveals population-level heterogeneity for the genetic risks of prostate cancer and other cancers in Africa

Maxine S. Harlemon, Olabode Ajayi, Paidamoyo Kachambwa, Michelle S. Kim, Corinne Simonti, Melanie H. Quiver, Desiree C. Petersen, Anuradha Mittal, Pedro W. Fernandez, Ann W. Hsing, Shakuntala Baichoo, Ilir Agalliu, Mohamed Jalloh, Sérigne Maguèye Gueye, Nana Yaa Snyper, , Joseph Lachance

The paper develops a genotyping array tailored for African populations to identify cancer risk variants, finding population-specific allele frequency differences and lower prostate cancer risk in Senegal compared to Nigeria.

Cancer Research · May 11, 2020Peer-reviewedGenomics

Imputation-Based Genomic Coverage Assessments of Current Genotyping Arrays: Illumina HumanCore, OmniExpress, Multi-Ethnic global array and sub-arrays, Global Screening Array, Omni2.5M, Omni5M, and Affymetrix UK Biobank

Sarah C. Nelson, Jane Romm, Kimberly Floy Doheny, Elizabeth Pugh, Cathy C. Laurie

The paper assesses genomic coverage of various genotyping arrays using imputation and the 1000 Genomes Project, finding that coverage increases with density and population-specific arrays may outperform denser arrays in targeted populations.

bioRxiv · Jun 14, 2017 · PreprintGenetics