Author

Kristen Hassmiller Lich

University of North Carolina at Chapel HillORCID 0000-0002-3311-4202Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Approach:benchmark study· 2 Research Focus:benchmarking· 2 Approach:statistical model· 2 Organism:human· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Jonathan S. BergiD· 2 shared Anne Michele SlavotinekiD· 1 shared Bart S. FerketiD· 1 shared Bruce D. GelbiD· 1 shared Hadley Stevens SmithiD· 1 shared Isabella GuynniD· 1 shared Karen HickliniD· 1 shared Karl JohnsoniD· 1 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Jonathan S. BergORCID

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2 papers

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

A Systematic Review of the Methodological Quality of Economic Evaluations in Genetic Screening and Testing for Monogenic Disorders

Karl Johnson, Katherine Witte Saylor, Isabella Guynn, Karen Hicklin, Jonathan S. Berg, Kristen Hassmiller Lich

This paper reviews economic evaluations of genetic screening/testing for monogenic disorders, finding variability in methodological quality and opportunities for improvement.

Genetics in Medicine · Dec 6, 2021Peer-reviewedGenetic & Genomic Medicine