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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Sri V. V. Deevi
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Sri V. V. Deevi is an academic researcher from AstraZeneca (United Kingdom). The author has contributed to research in topics: Genomics and Rare Diseases & Immunodeficiency and Autoimmune Disorders & Genetic Associations and Epidemiology. The author has an h-index of 34, co-authored 44 publications.
ORCID: 0000-0002-0405-4335Papers 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
Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis
2021 · Communications Biology · 61 citations
https://doi.org/10.1038/s42003-021-01910-y
Whole-genome sequencing of 490,640 UK Biobank participants
2025 · Nature · 56 citations
https://doi.org/10.1038/s41586-025-09272-9
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