Author

Patricia A. Deverka

University of California, San FranciscoORCID 0000-0002-1777-4286Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:benchmark study· 1 Research Focus:benchmarking· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Anne Michele SlavotinekiD· 1 shared Bart S. FerketiD· 1 shared Bruce D. GelbiD· 1 shared Hadley Stevens SmithiD· 1 shared Jonathan S. BergiD· 1 shared Kathryn A. PhillipsiD· 1 shared Kristen Hassmiller LichiD· 1 shared Lucia A. HindorffiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Anne Michele SlavotinekORCID

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1 paper

Recent·Most cited

Cost and Clinical Utility of WES and WGS in pediatric patients with suspected genetic disease

Michael P. Douglas, Patricia A. Deverka, Bruce D. Gelb, Bart S. Ferket, Kristen Hassmiller Lich, Hadley Stevens Smith, Mary E. Norton, Jonathan S. Berg, Anne Michele Slavotinek, Lucia A. Hindorff, Kathryn A. Phillips

This study reviews the cost and clinical utility of whole exome sequencing (WES) and whole genome sequencing (WGS) in pediatric genetic disease diagnosis, finding limited evidence of WGS superiority over WES in changing clinical management.

medRxiv · Oct 10, 2022 · PreprintGenetic & Genomic Medicine