Author

Diana Rajan

Wellcome Sanger Institute

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· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Alejandro SifrimiD· 2 shared Elena PrigmoreiD· 2 shared A. Paul BevaniD· 1 shared Abhijit DixitiD· 1 shared Adam S. ButterworthiD· 1 shared Adrian R. TiveyiD· 1 shared Alan DonaldsoniD· 1 shared Alan E Fryer· 1 shared

Activity by Year

2019-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alejandro SifrimORCID

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3 papers

Recent·Most cited

Genetic determinants of blood gene expression and splicing and their contribution to molecular phenotypes and health outcomes

Alex Tokolyi, Elodie Persyn, Artika P. Nath, Katie L. Burnham, Jonathan Marten, Thomas Vanderstichele, Manuel Tardáguila, David Stacey, Ben W. Farr, Vivek Iyer, Xilin Jiang, Samuel A. Lambert, Guillaume G. Noell, Michael Andrew Quail, Diana Rajan, , Dirk S. Paul

This study identifies genetic determinants of blood gene expression and splicing, linking them to molecular phenotypes and health outcomes through QTL analysis and colocalization.

Nature Genetics · Mar 1, 2025Peer-reviewedGenetic & Genomic Medicine

Detecting cryptic clinically-relevant structural variation in exome sequencing data increases diagnostic yield for developmental disorders

Eugene J. Gardner, Alejandro Sifrim, Sarah Lindsay, Elena Prigmore, Diana Rajan, Petr Danecek, Giuseppe Gallone, Ruth Y. Eberhardt, Hilary C. Martin, Caroline Fiona Wright, David R FitzPatrick, Helen V. Firth, Matthew E. Hurles

InDelible detects cryptic structural variants in exome sequencing data, improving diagnostic yield for developmental disorders by identifying variants missed by standard methods.

The American Journal of Human Genetics · Oct 8, 2021Peer-reviewedGenetic & Genomic Medicine

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia A. Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, , Neeti Ghali

The paper analyzes de novo mutations in developmental disorders using exome sequencing of 4,293 families, identifying 94 genes and estimating a birth prevalence of 0.22-0.47%.

bioRxiv · Mar 7, 2019 · PreprintGenetics