Author

A. Paul Bevan

Wellcome Sanger InstituteORCID 0000-0002-0656-9164Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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

Frequent Co-Authors

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 Amanda CollinsiD· 1 shared Andrea Coates· 1 shared

Activity by Year

2019-2019 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Abhijit DixitORCID

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1 paper

Recent·Most cited

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