Whole-genome sequencing of patients with rare diseases in a national health system
2020 · Nature · 568 citations
https://doi.org/10.1038/s41586-020-2434-2
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Sarah K. Westbury
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Sarah K. Westbury is an academic researcher from University Hospitals Bristol NHS Foundation Trust. The author has contributed to research in topics: Platelet Disorders and Treatments & Genomics and Rare Diseases & Immunodeficiency and Autoimmune Disorders. The author has an h-index of 29, co-authored 62 publications.
ORCID: 0000-0002-0950-8148Papers by this author
worksGermline selection shapes human mitochondrial DNA diversity
2019 · Science · 247 citations
https://doi.org/10.1126/science.aau6520
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
2018 · Scientific Reports · 90 citations
https://doi.org/10.1038/s41598-017-14403-y
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
2018 · The American Journal of Human Genetics · 72 citations
https://doi.org/10.1016/j.ajhg.2018.04.013
A new pedigree with thrombomodulin‐associated coagulopathy in which delayed fibrinolysis is partially attenuated by co‐inherited TAFI deficiency
2020 · Journal of Thrombosis and Haemostasis · 24 citations
https://doi.org/10.1111/jth.14990
Rare disease gene association discovery in the 100,000 GenomesProject
2025 · Nature · 13 citations
https://doi.org/10.1038/s41586-025-08623-w
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