Author

Monica A. Giovanni

Geisinger Health System

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· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Approach:experimental assay· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Adam H. BuchananiD· 2 shared Michael F. MurrayiD· 2 shared Alan F. ScottiD· 1 shared Alanna Kulchak RahmiD· 1 shared Amanda L. Lazzeri· 1 shared Amy Curry SturmiD· 1 shared Avni SantaniiD· 1 shared Bryce A. SeifertiD· 1 shared

Activity by Year

2017-2018 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenomics

Adam H. BuchananORCID

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Author profile →

2 papers

Recent·Most cited

A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort

Marci L.B. Schwartz, Cara Zayac McCormick, Amanda L. Lazzeri, D’Andra M. Lindbuchler, Miranda L. G. Hallquist, Kandamurugu Manickam, Adam H. Buchanan, Alanna Kulchak Rahm, Monica A. Giovanni, Lauren R. Frisbie, Carroll N. Flansburg, F. Daniel Davis, Amy Curry Sturm, Christine Nicastro, Matthew S. Lebo, , Michael F. Murray

The paper describes a model for returning secondary genomic findings to participants and healthcare providers in a large research cohort, with 93% successful contact rates and 222 providers notified.

The American Journal of Human Genetics · Aug 9, 2018Peer-reviewedGenomics

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource

Natasha T. Strande, Erin Rooney Riggs, Adam H. Buchanan, Ozge Ceyhan‐Birsoy, Marina T. DiStefano, Selina S. Dwight, Jenny Goldstein, Rajarshi Ghosh, Bryce A. Seifert, Tam P. Sneddon, Matt W. Wright, Laura V. Milko, J. Michael Cherry, Monica A. Giovanni, Michael F. Murray, , Jonathan S. Berg

The paper presents a framework to evaluate the clinical validity of gene-disease associations, validated using representative gene-disease pairs.

The American Journal of Human Genetics · May 25, 2017Peer-reviewedGenetics