Author

Wasanthi DeSilva

Peter MacCallum Cancer Centre

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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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

ANDREW P. FELLOWESiD· 2 shared Brian H. ShirtsiD· 2 shared Catherine Huang· 2 shared Eric W. KleeiD· 2 shared Farol L. Tomson· 2 shared Justin M. ZookiD· 2 shared Marc SalitiD· 2 shared Matthew J. FerberiD· 2 shared

Activity by Year

2017-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

ANDREW P. FELLOWESORCID

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2 papers

Recent·Most cited

One in seven pathogenic variants can be challenging to detect by NGS: An analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

Stephen E. Lincoln, Tina M. Hambuch, Justin M. Zook, Sara L. Bristow, Kathryn E. Hatchell, Rebecca Truty, Michael I. Kennemer, Brian H. Shirts, ANDREW P. FELLOWES, Shimul Chowdhury, Eric W. Klee, Shazia Mahamdallie, Megan H. Cleveland, Peter M. Vallone, Yan Ding, , Robert Luke Nussbaum

The paper evaluates the detection of technically challenging variants in NGS workflows using synthetic specimens and clinical data from 450,000 patients, finding significant variability in detection rates.

Genetics in Medicine · May 18, 2021Peer-reviewedGenetic & Genomic Medicine

An interlaboratory study of complex variant detection

Stephen E. Lincoln, Justin M. Zook, Shimul Chowdhury, Shazia Mahamdallie, ANDREW P. FELLOWES, Eric W. Klee, Rebecca Truty, Catherine Huang, Farol L. Tomson, Megan H. Cleveland, Peter M. Vallone, Yan Ding, Sheila Seal, Wasanthi DeSilva, Russell K. Garlick, , Brian H. Shirts

This study evaluates synthetic specimens with challenging variants across 10 NGS workflows, finding limited variant detection consistency and highlighting bioinformatic limitations.

bioRxiv · Nov 23, 2017 · PreprintGenetics