Author

Sarah T. South

23andMe (United States)

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 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2

Frequent Co-Authors

Andy P. Peiffer· 1 shared Benjamin HiltoniD· 1 shared Brynn LevyiD· 1 shared Charles H. HenseliD· 1 shared Christophe Gerard LambertiD· 1 shared Colyn B. Cargile· 1 shared David W Marsh· 1 shared Edward Robert WassmaniD· 1 shared

Activity by Year

2017-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenomics

Andy P. Peiffer

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 24, 2025

Whole-Genome Sequencing is a Viable Replacement for Chromosomal Microarray and Fragile X PCR Testing

Yueyao Gao, Sarah T. South, Colyn B. Cargile…·Peter H Bui

This study shows that whole-genome sequencing can replace chromosomal microarray and Fragile X testing with higher accuracy and broader coverage for genetic disorders.

1 citation

humanwhole-genome sequencing

𝕏 PostBluesky

GenomicsPLoS CurrentsPeer-reviewedJan 1, 2017

Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions

Charles H. Hensel, Rena J. Vanzo, Megan M. Martin…·Edward Robert Wassman

This paper validates the analytical and clinical utility of FirstStepDx PLUS, a chromosomal microarray optimized for neurodevelopmental conditions, showing its effectiveness in detecting copy number variants using buccal and blood samples.

11 citations

humanwhole-genome sequencing

𝕏 PostBluesky