Author

W. Andrew Faucett

Geisinger Health SystemORCID 0000-0003-3051-3256Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genomics· 2

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Research Focus:benchmarking· 2 Organism:human· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Approach:benchmark study· 1 Approach:experimental assay· 1 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Adam H. BuchananiD· 3 shared Miranda L. G. HallquistiD· 3 shared Curtis R. CoughliniD· 2 shared David H. LedbetteriD· 2 shared David J. CareyiD· 2 shared Eric P. TricouiD· 2 shared Holly Landrum PeayiD· 2 shared Karen E. WainiD· 2 shared

Activity by Year

2017-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Adam H. BuchananORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedJun 12, 2023

Defining the Critical Educational Components of Informed Consent for Genetic Testing: Views of US-Based Genetic Counselors and Medical Geneticists

Miranda L. G. Hallquist, Maia J. Borensztein, Curtis R. Coughlin…·Kelly E. Ormond

The paper surveys genetic professionals on the sufficiency of core informed consent concepts for genetic testing, finding high agreement on their adequacy for informed decision-making.

7 citations

statistical modelbenchmark study

𝕏 PostBluesky

Genetic & Genomic MedicineJournal of Personalized MedicinePeer-reviewedDec 5, 2021

Defining the Critical Components of Informed Consent for Genetic Testing: A Delphi Study

Kelly E. Ormond, Maia J. Borensztein, Miranda L. G. Hallquist…·Curtis R. Coughlin

This study identifies core concepts essential for informed consent in genetic testing through a Delphi process involving experts in genetics and bioethics.

45 citations

statistical modelbenchmarking

𝕏 PostBluesky

GenomicsThe American Journal of Human GeneticsPeer-reviewedAug 9, 2018

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…·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.

182 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky

GenomicsbioRxivPreprintMar 22, 2017

Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes

Evan K. Maxwell, Jonathan S. Packer, Colm T. O’Dushlaine…·Jeffrey G. Reid

The paper identifies and analyzes exonic copy number variants (CNVs) in 50,726 DiscovEHR participants, linking them to clinical traits and phenotypes.

11 citations

humanwhole-exome sequencing

𝕏 PostBluesky