Author

Brittany C. Thomas

Illumina (United States)ORCID 0000-0003-2870-1522Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Amanda Thomas‐WilsoniD· 1 shared Ana S.A. CoheniD· 1 shared Anna SzutoiD· 1 shared Carol SaundersiD· 1 shared Christian R. MarshalliD· 1 shared Christian S. Neckelmann· 1 shared Christina DiVincenzo· 1 shared Christine M. Stanley· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Amanda Thomas‐WilsonORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedJul 30, 2023

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya…·Stephen Francis Kingsmore

The paper analyzes VUS rates in genetic testing and finds lower rates in exome/genome sequencing compared to multi-gene panels, suggesting improvements in variant reporting practices.

138 citationstop 1%

whole-exome sequencingwhole-genome sequencing

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