Author

Simon Brent

Wellcome Sanger InstituteORCID 0000-0001-9145-1541Unclaimed ORCID profile · follow to get notified of new preprints

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 Assay:whole-exome sequencing· 2 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Joanna KaplanisiD· 2 shared Stuart AitkeniD· 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

Activity by Year

2019-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Joanna KaplanisORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 25, 2022

Optimising diagnostic yield in highly penetrant genomic disease

Caroline Fiona Wright, Patrick H. Campbell, Ruth Y. Eberhardt…·Helen V. Firth

The paper reports diagnostic outcomes from a large-scale genomic study of developmental disorders, identifying factors that influence diagnostic success.

9 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsbioRxivPreprintMar 7, 2019

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

Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald…·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%.

30 citations

humanwhole-exome sequencing

𝕏 PostBluesky