Author

S J White

The University of Melbourne

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

Signature Assays, Organisms & Methods

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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

Alan H. BeggsiD· 1 shared Alba Sanchis‐JuaniD· 1 shared Alysia Kern LovgreniD· 1 shared Ana TöpfiD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Ben WeisburdiD· 1 shared Brian E. Mangilog· 1 shared Carsten G. BönnemanniD· 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

Alan H. BeggsORCID

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1 paper

Recent·Most cited

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

Monica Hsiung Wojcik, Gabrielle Lemire, Maha Saad Zaki, Mariel Wissmann, Wathone Win, S J White, Ben Weisburd, Leigh B. Waddell, Jeffrey M. Verboon, Grace E. VanNoy, Ana Töpf, Tiong Yang Tan, Volker W. Straub, Sarah L. Stenton, Hana Snow, , Anne O’Donnell‐Luria

This study evaluates genome sequencing's diagnostic yield in a cohort of undiagnosed rare disease patients, finding it solves 29.3% of cases with specific variant types not detectable by exome sequencing.

medRxiv · Aug 8, 2023 · PreprintGenetic & Genomic Medicine