Author

Nadia A. Akawi

Wellcome Sanger InstituteORCID 0000-0001-6311-7028Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 3 Approach:statistical model· 3 Assay:whole-exome sequencing· 3 Research Focus:variant effect prediction· 2 Research Focus:differential expression· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Jeremy F. McRaeiD· 3 shared Joanna KaplanisiD· 3 shared John DeaniD· 3 shared Alan DonaldsoniD· 2 shared Alejandro SifrimiD· 2 shared Bruce Castle· 2 shared Carole Brewer· 2 shared Deirdre Donnelly· 2 shared

Activity by Year

2018-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

3 shared papersGenetics

Jeremy F. McRaeORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedJan 27, 2021

The contribution of X-linked coding variation to severe developmental disorders

Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha…·Therese Bradley

The paper analyzes X-linked coding variation in developmental disorders, finding similar rates in males and females and estimating pathogenicity of inherited variants.

67 citationstop 3%

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

GeneticsSciencePeer-reviewedNov 8, 2018

Quantifying the contribution of recessive coding variation to developmental disorders

Hilary C. Martin, Wendy D. Jones, Rebecca E. McIntyre…·on behalf of the Deciphering Developmental Disorders Study

The paper estimates the contribution of recessive coding variants to developmental disorders using exome data from 7,448 families, finding low prevalence in European ancestry but higher in Pakistani ancestry.

200 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky