Author

David U. Baty

NHS Tayside

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 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Approach:benchmark study· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Jonathan N. BergiD· 2 shared A. Paul BevaniD· 1 shared Abhijit DixitiD· 1 shared Adrian R. TiveyiD· 1 shared Alan DonaldsoniD· 1 shared Alan E Fryer· 1 shared Alejandro SifrimiD· 1 shared Alexis Duncan· 1 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Jonathan N. BergORCID

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Author profile →

2 papers

Recent·Most cited

Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project

Prasun Dutta, Alistair T. Pagnamenta, Christelle Robert, Anthony McGuigan, Alison Ross, Edward S. Tobias, Ruth McGowan, Morad Ansari, David U. Baty, Jonathan N. Berg, Therese Bradley, Vera Cerqueira, Austin G. Diamond, Mihail R. Halachev, Anne Lampe, , Timothy J. Aitman

This study uses long-read sequencing to identify pathogenic structural variants in undiagnosed rare disease families, increasing diagnostic yield in three families.

European Journal of Human Genetics · Aug 5, 2026Peer-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