Author

Wil I Rich

University of Southampton

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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Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Andrew G. L. DouglasiD· 1 shared Carolina Jaramillo OquendoiD· 1 shared David Hunt· 1 shared David J. BunyaniD· 1 shared Diana BaralleiD· 1 shared Htoo A. WaiiD· 1 shared Jenny LordiD· 1 shared Nicholas Simon ThomasiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

8 top collaborators · 28 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Andrew G. L. DouglasORCID

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1 paper

Recent·Most cited

RNA-sequencing first approach generates new diagnostic candidates in Mendelian disorders

Carolina Jaramillo Oquendo, Htoo A. Wai, Wil I Rich, David J. Bunyan, Nicholas Simon Thomas, David Hunt, Jenny Lord, Andrew G. L. Douglas, Diana Baralle

This study uses RNA-sequencing to identify novel diagnoses in Mendelian disorders by detecting aberrant splicing and expression abnormalities, particularly in patients without candidate sequence variants.

medRxiv · Jul 5, 2023 · PreprintGenetic & Genomic Medicine