Author

Rachel Williams

UNSW SydneyORCID 0000-0001-6353-944XUnclaimed ORCID profile · follow to get notified of new preprints

Additional preprints under this name without ORCID

Rachel Williams2 papers · University of Oxford

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Organism:human· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Abiramy Ragunathan· 1 shared Aideen M McInerney-LeoiD· 1 shared Ainsley CampbelliD· 1 shared Alex BoussioutasiD· 1 shared Alex HendersoniD· 1 shared Allan D. SpigelmaniD· 1 shared Amanda M. Willis· 1 shared Annabel GoodwiniD· 1 shared

Activity by Year

2023-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abiramy Ragunathan

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2 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMay 3, 2023

Development and evaluation of a novel educational program for providers on the use of polygenic risk scores

Tatiane Yanes, Courtney K. Wallingford, Mary-Anne Young…·Paul Andrew James

This paper evaluates an educational program for healthcare providers on polygenic risk scores, finding it improves their attitudes, confidence, knowledge, and preparedness for using PRS in clinical practice.

12 citations

statistical modelbenchmarking

𝕏 PostBluesky

Genetic & Genomic MedicineJournal of Translational MedicinePeer-reviewedApr 26, 2023

A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome

Romy Walker, Khalid Mahmood, Jihoon Eric Joo…·Daniel D. Buchanan

This study resolves the etiology of suspected Lynch syndrome tumors by analyzing somatic and germline mutations, methylation, and immunohistochemistry in 137 tumors, identifying key causes of DNA mismatch repair deficiency.

22 citationstop 5%

humanwhole-exome sequencing

𝕏 PostBluesky